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: C0008728
Disease: Eosinophilic granulomatosis with polyangiitis
Eosinophilic granulomatosis with polyangiitis 		38 3 21 0.29 1 0.12
CUI: C4022120
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th toe
Aplasia/Hypoplasia of the distal phalanx of the 5th toe 		10 0 10 0.18 0 0
CUI: C4024507
Disease: Aplasia/Hypoplasia of the distal phalanx of the 5th finger
Aplasia/Hypoplasia of the distal phalanx of the 5th finger 		10 0 10 0.18 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 0 10 0.18 0 0
CUI: C4023116
Disease: Hypoplastic fifth toenail
Hypoplastic fifth toenail 		12 0 10 0.17 0 0
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 10 0.15 0 0
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 10 0.13 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 10 0.13 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 11 0.13 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 11 0.13 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 0 10 0.12 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 10 0.12 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 10 0.11 0 0
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		6 61 6 0.11 1 1.5E-02
CUI: C0007279
Disease: Carotid Body Paraganglioma
Carotid Body Paraganglioma 		7 0 6 0.11 0 0
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
Nicolaides Baraitser syndrome 		18 0 7 0.10 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 11 1.0E-01 0 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 11 9.7E-02 0 0
CUI: C0030422
Disease: Extra-Adrenal Paraganglioma
Extra-Adrenal Paraganglioma 		12 0 6 9.7E-02 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 12 9.7E-02 0 0
CUI: C1858592
Disease: Carney Triad
Carney Triad 		25 0 7 9.5E-02 0 0
CUI: C1853738
Disease: Long eyelashes
Long eyelashes 		83 0 12 9.4E-02 0 0
CUI: C1857042
Disease: Sparse scalp hair
Sparse scalp hair 		85 0 12 9.3E-02 0 0
CUI: C0236053
Disease: Mucosal ulcer
Mucosal ulcer 		15 0 6 9.2E-02 0 0
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma 		15 0 6 9.2E-02 0 0