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: C0423813
Disease: Splits in nails (finding)
Splits in nails (finding) 		8 0 2 0.15 0 0
CUI: C1858160
Disease: CRANIOSYNOSTOSIS, TYPE 2
CRANIOSYNOSTOSIS, TYPE 2 		23 0 4 0.15 0 0
CUI: C3203533
Disease: Psychological Trauma
Psychological Trauma 		8 0 2 0.15 0 0
CUI: C0265201
Disease: De Sanctis-Cacchione syndrome
De Sanctis-Cacchione syndrome 		1 51 1 0.14 48 0.79
CUI: C1836933
Disease: Low-set nipples
Low-set nipples 		9 0 2 0.14 0 0
CUI: C1851430
Disease: Subcortical white matter calcifications
Subcortical white matter calcifications 		1 0 1 0.14 0 0
CUI: C1851431
Disease: Cerebellar calcifications
Cerebellar calcifications 		1 0 1 0.14 0 0
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
CEREBROOCULOFACIOSKELETAL SYNDROME 4 		1 3 1 0.14 1 1.7E-02
CUI: C1853102
Disease: Cerebrooculofacioskeletal Syndrome 2
Cerebrooculofacioskeletal Syndrome 2 		1 6 1 0.14 2 3.2E-02
CUI: C1859224
Disease: Second metatarsal posteriorly placed
Second metatarsal posteriorly placed 		1 0 1 0.14 0 0
CUI: C1970808
Disease: Xeroderma Pigmentosum B-Cockayne Syndrome
Xeroderma Pigmentosum B-Cockayne Syndrome 		1 0 1 0.14 0 0
CUI: C3151063
Disease: MACULAR DEGENERATION, AGE-RELATED, 5
MACULAR DEGENERATION, AGE-RELATED, 5 		1 5 1 0.14 4 6.8E-02
CUI: C3551173
Disease: UV-SENSITIVE SYNDROME 1
UV-SENSITIVE SYNDROME 1 		1 5 1 0.14 4 6.8E-02
CUI: C4024826
Disease: Pigmentation anomalies of sun-exposed skin
Pigmentation anomalies of sun-exposed skin 		1 0 1 0.14 0 0
CUI: C4225344
Disease: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE 		1 0 1 0.14 0 0
CUI: C4310783
Disease: PREMATURE OVARIAN FAILURE 11
PREMATURE OVARIAN FAILURE 11 		1 6 1 0.14 5 8.5E-02
CUI: C0751038
Disease: Cockayne Syndrome, Type II
Cockayne Syndrome, Type II 		34 69 5 0.14 48 0.61
CUI: C0152233
Disease: Congenital ankyloblepharon
Congenital ankyloblepharon 		18 0 3 0.14 0 0
CUI: C0339182
Disease: Ankyloblepharon
Ankyloblepharon 		18 0 3 0.14 0 0
CUI: C2169795
Disease: Recurrent bronchopulmonary infections
Recurrent bronchopulmonary infections 		10 0 2 0.13 0 0
CUI: C0239105
Disease: Conjunctival telangiectasis
Conjunctival telangiectasis 		20 0 3 0.12 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 2 0.12 0 0
CUI: C0277827
Disease: Early fontanel closure
Early fontanel closure 		2 0 1 0.12 0 0
CUI: C0751037
Disease: Cockayne Syndrome, Type III
Cockayne Syndrome, Type III 		2 0 1 0.12 0 0
CUI: C1851443
Disease: Cerebrooculofacioskeletal Syndrome 3
Cerebrooculofacioskeletal Syndrome 3 		2 0 1 0.12 0 0