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: C0265988
Disease: Congenital accessory skin tag
Congenital accessory skin tag 		1 0 1 0.20 0 0
CUI: C1855459
Disease: Congenital symmetrical palmoplantar keratosis
Congenital symmetrical palmoplantar keratosis 		1 0 1 0.20 0 0
CUI: C1855644
Disease: Keratoderma, Palmoplantar, Norrbotten Recessive Type
Keratoderma, Palmoplantar, Norrbotten Recessive Type 		1 0 1 0.20 0 0
CUI: C1963250
Disease: Torsade de Pointes, CTCAE
Torsade de Pointes, CTCAE 		1 1 1 0.20 1 0.33
CUI: C2363246
Disease: Other specified congenital malformations of skin
Other specified congenital malformations of skin 		1 0 1 0.20 0 0
CUI: C2751986
Disease: RETINITIS PIGMENTOSA 42
RETINITIS PIGMENTOSA 42 		1 0 1 0.20 0 0
CUI: C2910342
Disease: Inherited keratosis palmaris et plantaris
Inherited keratosis palmaris et plantaris 		1 0 1 0.20 0 0
CUI: C2910343
Disease: Keratosis follicularis [Darier-White]
Keratosis follicularis [Darier-White] 		1 0 1 0.20 0 0
CUI: C4024891
Disease: Hyperkeratosis with erythema
Hyperkeratosis with erythema 		1 0 1 0.20 0 0
CUI: C4024898
Disease: Atrophy/Degeneration affecting the cerebrum
Atrophy/Degeneration affecting the cerebrum 		1 1 1 0.20 1 0.33
CUI: C4025865
Disease: Abnormality of facial musculature
Abnormality of facial musculature 		1 1 1 0.20 1 0.33
CUI: C4225171
Disease: METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION
METABOLIC ENCEPHALOMYOPATHIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION 		1 6 1 0.20 1 0.12
CUI: C4310618
Disease: HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME 		1 12 1 0.20 1 7.1E-02
CUI: C4310742
Disease: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 		1 6 1 0.20 1 0.12
CUI: C0431670
Disease: Webbed penis
Webbed penis 		2 2 1 0.17 1 0.25
CUI: C1697450
Disease: obsolete Prominent epicanthal folds
obsolete Prominent epicanthal folds 		2 2 1 0.17 1 0.25
CUI: C4023172
Disease: Broad chin
Broad chin 		2 0 1 0.17 0 0
CUI: C4225398
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY
CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY 		3 0 1 0.14 0 0
CUI: C0751572
Disease: Vertebrobasilar Dolichoectasia
Vertebrobasilar Dolichoectasia 		4 0 1 0.12 0 0
CUI: C1848850
Disease: Nevus flammeus of the forehead
Nevus flammeus of the forehead 		4 0 1 0.12 0 0
CUI: C1848947
Disease: COLD-INDUCED SWEATING SYNDROME 1
COLD-INDUCED SWEATING SYNDROME 1 		4 0 1 0.12 0 0
CUI: C1853198
Disease: COLD-INDUCED SWEATING SYNDROME 2
COLD-INDUCED SWEATING SYNDROME 2 		4 0 1 0.12 0 0
CUI: C4022662
Disease: Abnormality of lateral ventricle
Abnormality of lateral ventricle 		4 2 1 0.12 1 0.25
CUI: C4022770
Disease: Abnormal thalamic MRI signal intensity
Abnormal thalamic MRI signal intensity 		4 6 1 0.12 1 0.12
CUI: C4524073
Disease: Low anterior resection syndrome
Low anterior resection syndrome 		4 0 1 0.12 0 0