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: C1851970
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 		4 0 4 0.36 0 0
CUI: C4727832
Disease: Telomere Syndrome
Telomere Syndrome 		5 0 3 0.23 0 0
CUI: C0014866
Disease: Esophageal Stenosis
Esophageal Stenosis 		17 0 5 0.22 0 0
CUI: C1148551
Disease: X-Linked Dyskeratosis Congenita
X-Linked Dyskeratosis Congenita 		17 0 5 0.22 0 0
CUI: C4023400
Disease: Generalized hypopigmentation of hair
Generalized hypopigmentation of hair 		6 0 3 0.21 0 0
CUI: C0239804
Disease: White hair
White hair 		18 0 5 0.21 0 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		7 0 3 0.20 0 0
CUI: C4020958
Disease: Rough bone trabeculation
Rough bone trabeculation 		19 0 5 0.20 0 0
CUI: C3814530
Disease: Skin Vesicle
Skin Vesicle 		20 0 5 0.19 0 0
CUI: C0150993
Disease: Pitting of nails
Pitting of nails 		8 0 3 0.19 0 0
CUI: C0152009
Disease: White blood cell abnormality
White blood cell abnormality 		8 0 3 0.19 0 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation 		8 0 3 0.19 0 0
CUI: C1332345
Disease: Atypical Adenomatous Lung Hyperplasia
Atypical Adenomatous Lung Hyperplasia 		2 0 2 0.18 0 0
CUI: C1846142
Disease: HOYERAAL-HREIDARSSON SYNDROME
HOYERAAL-HREIDARSSON SYNDROME 		16 0 4 0.17 0 0
CUI: C1856749
Disease: Aplastic/hypoplastic toenail
Aplastic/hypoplastic toenail 		23 0 5 0.17 0 0
CUI: C4025838
Disease: Abnormality of the pharynx
Abnormality of the pharynx 		23 0 5 0.17 0 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia 		17 0 4 0.17 0 0
CUI: C1850083
Disease: Irregular ossification at anterior rib ends
Irregular ossification at anterior rib ends 		3 0 2 0.17 0 0
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		41 0 7 0.16 0 0
CUI: C3808553
Disease: Bone marrow failure syndrome 1
Bone marrow failure syndrome 1 		4 0 2 0.15 0 0
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		4 0 2 0.15 0 0
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia 		12 0 3 0.15 0 0
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		58 0 9 0.15 0 0
CUI: C4531138
Disease: Short telomere length
Short telomere length 		12 0 3 0.15 0 0
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic 		13 0 3 0.14 0 0