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: 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 0.83 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 0.83 0 0
CUI: C4024682
Disease: Hypoplastic fifth fingernail
Hypoplastic fifth fingernail 		11 3 10 0.77 2 0.40
CUI: C1868577
Disease: Patella aplasia-hypoplasia
Patella aplasia-hypoplasia 		20 0 10 0.45 0 0
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		6 61 5 0.38 2 3.2E-02
CUI: C4021801
Disease: Lacrimation abnormality
Lacrimation abnormality 		29 0 10 0.32 0 0
CUI: C4025249
Disease: Abnormality of the intervertebral disk
Abnormality of the intervertebral disk 		30 0 10 0.31 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 0 10 0.27 0 0
CUI: C0431368
Disease: Partial agenesis of corpus callosum
Partial agenesis of corpus callosum 		38 0 10 0.25 0 0
CUI: C4021735
Disease: Abnormality of the hip bone
Abnormality of the hip bone 		40 0 10 0.24 0 0
CUI: C0238207
Disease: Ectopic kidney
Ectopic kidney 		41 0 10 0.23 0 0
CUI: C4021792
Disease: Abnormality of the clavicle
Abnormality of the clavicle 		42 0 10 0.23 0 0
CUI: C1861336
Disease: Aplasia/Hypoplasia of the distal phalanges of the hand
Aplasia/Hypoplasia of the distal phalanges of the hand 		6 0 3 0.20 0 0
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		56 0 10 0.17 0 0
CUI: C2985524
Disease: Rhabdoid tumor predisposition syndrome
Rhabdoid tumor predisposition syndrome 		3 0 2 0.15 0 0
CUI: C4021892
Disease: Absent fifth toenail
Absent fifth toenail 		3 0 2 0.15 0 0
CUI: C1862095
Disease: Bilateral single transverse palmar creases
Bilateral single transverse palmar creases 		65 0 10 0.15 0 0
CUI: C0239137
Disease: Coxa valga
Coxa valga 		68 0 10 0.14 0 0
CUI: C1516865
Disease: Endometrial Undifferentiated Carcinoma
Endometrial Undifferentiated Carcinoma 		4 0 2 0.14 0 0
CUI: C1857453
Disease: Renal hypoplasia/aplasia
Renal hypoplasia/aplasia 		73 0 10 0.13 0 0
CUI: C4225202
Disease: LAMB-SHAFFER SYNDROME
LAMB-SHAFFER SYNDROME 		5 0 2 0.13 0 0
CUI: C0080174
Disease: Spina Bifida Occulta
Spina Bifida Occulta 		76 0 10 0.13 0 0
CUI: C1839829
Disease: Short distal phalanx of finger
Short distal phalanx of finger 		85 0 11 0.13 0 0
CUI: C1836674
Disease: Short distal phalanx of the 5th finger
Short distal phalanx of the 5th finger 		6 0 2 0.12 0 0
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata 		80 0 10 0.12 0 0