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: C0016038
Disease: Fibroelastosis
Fibroelastosis 		7 0 4 0.20 0 0
CUI: C0265965
Disease: Dyskeratosis Congenita
Dyskeratosis Congenita 		58 0 12 0.19 0 0
CUI: C3279575
Disease: Reticulated skin pigmentation
Reticulated skin pigmentation 		8 0 4 0.19 0 0
CUI: C1846821
Disease: Abnormality of coagulation
Abnormality of coagulation 		59 0 12 0.19 0 0
CUI: C0005741
Disease: Blepharitis
Blepharitis 		55 0 11 0.18 0 0
CUI: C4022018
Disease: Telangiectasia of the skin
Telangiectasia of the skin 		56 0 11 0.18 0 0
CUI: C3502105
Disease: Dyskeratosis Congenita, Autosomal Recessive
Dyskeratosis Congenita, Autosomal Recessive 		3 0 3 0.18 0 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		64 0 12 0.17 0 0
CUI: C0406438
Disease: Pterygium of nail
Pterygium of nail 		4 0 3 0.17 0 0
CUI: C4024890
Disease: Excessive wrinkled skin
Excessive wrinkled skin 		25 0 6 0.17 0 0
CUI: C2132198
Disease: Abnormal blistering of the skin
Abnormal blistering of the skin 		75 0 12 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: C0154832
Disease: Exudative retinopathy
Exudative retinopathy 		23 0 5 0.14 0 0
CUI: C1851972
Disease: Reticular hyperpigmentation
Reticular hyperpigmentation 		7 0 3 0.14 0 0
CUI: C0040588
Disease: Tracheoesophageal Fistula
Tracheoesophageal Fistula 		80 0 12 0.14 0 0
CUI: C0221260
Disease: Dystrophia unguium
Dystrophia unguium 		81 0 12 0.14 0 0
CUI: C0027543
Disease: Avascular necrosis of bone
Avascular necrosis of bone 		73 0 11 0.14 0 0
CUI: C0427515
Disease: Neutrophil abnormality
Neutrophil abnormality 		74 0 11 0.14 0 0
CUI: C0150993
Disease: Pitting of nails
Pitting of nails 		8 0 3 0.14 0 0
CUI: C0206061
Disease: Pneumonia, Interstitial
Pneumonia, Interstitial 		66 0 9 0.12 0 0
CUI: C4721508
Disease: Hamman-Rich Disease
Hamman-Rich Disease 		20 0 4 0.12 0 0
CUI: C1332345
Disease: Atypical Adenomatous Lung Hyperplasia
Atypical Adenomatous Lung Hyperplasia 		2 0 2 0.12 0 0
CUI: C4225356
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6 		2 0 2 0.12 0 0