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: C0013911
Disease: Emaciation
Emaciation 		6 0 3 0.43 0 0
CUI: C1844830
Disease: CLEFT PALATE, X-LINKED
CLEFT PALATE, X-LINKED 		9 4 3 0.30 4 0.80
CUI: C0333662
Disease: Hemiatrophy
Hemiatrophy 		1 0 1 0.25 0 0
CUI: C0342856
Disease: Coproporphyria
Coproporphyria 		1 0 1 0.25 0 0
CUI: C1263734
Disease: Coproporphyrinuria
Coproporphyrinuria 		1 0 1 0.25 0 0
CUI: C1840013
Disease: Elevated 8-dehydrocholesterol
Elevated 8-dehydrocholesterol 		1 0 1 0.25 0 0
CUI: C1840014
Disease: Elevated 8(9)-cholestenol
Elevated 8(9)-cholestenol 		1 0 1 0.25 0 0
CUI: C1844846
Disease: Stippled calcification in carpal bones
Stippled calcification in carpal bones 		1 0 1 0.25 0 0
CUI: C1844848
Disease: Tarsal stippling
Tarsal stippling 		1 0 1 0.25 0 0
CUI: C2610861
Disease: 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity
2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity 		1 0 1 0.25 0 0
CUI: C2959886
Disease: Cardiopulmonary Exercise Test
Cardiopulmonary Exercise Test 		1 0 1 0.25 0 0
CUI: C4016464
Disease: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL
CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT, ATYPICAL 		1 0 1 0.25 0 0
CUI: C4017281
Disease: COPROPORPHYRIA, DIGENIC
COPROPORPHYRIA, DIGENIC 		1 0 1 0.25 0 0
CUI: C4024153
Disease: Asymmetry of the mouth
Asymmetry of the mouth 		1 0 1 0.25 0 0
CUI: C4283786
Disease: Residue on Palate
Residue on Palate 		1 0 1 0.25 0 0
CUI: C4751433
Disease: Late-onset isolated adrenocorticotropic hormone deficiency
Late-onset isolated adrenocorticotropic hormone deficiency 		1 0 1 0.25 0 0
CUI: C0263627
Disease: Calcinosis universalis
Calcinosis universalis 		2 0 1 0.20 0 0
CUI: C0271402
Disease: Scleral abscess
Scleral abscess 		2 0 1 0.20 0 0
CUI: C1844862
Disease: Abruzzo Erickson syndrome
Abruzzo Erickson syndrome 		2 0 1 0.20 0 0
CUI: C4024678
Disease: Punctate vertebral calcifications
Punctate vertebral calcifications 		2 0 1 0.20 0 0
CUI: C4707825
Disease: X-linked cleft palate and ankyloglossia
X-linked cleft palate and ankyloglossia 		2 0 1 0.20 0 0
CUI: C0264324
Disease: Calcification of trachea
Calcification of trachea 		3 0 1 0.17 0 0
CUI: C1846421
Disease: Lathosterolosis
Lathosterolosis 		3 0 1 0.17 0 0
CUI: C1849993
Disease: Calcific stippling
Calcific stippling 		3 0 1 0.17 0 0
CUI: C4085243
Disease: MEND SYNDROME
MEND SYNDROME 		3 0 1 0.17 0 0