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: C1851057
Disease: Normal motor development
Normal motor development 		1 0 1 0.25 0 0
CUI: C3553735
Disease: Microcephaly in adulthood
Microcephaly in adulthood 		1 0 1 0.25 0 0
CUI: C3806565
Disease: XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME
XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME 		1 3 1 0.25 1 0.11
CUI: C4225212
Disease: SECKEL SYNDROME 9
SECKEL SYNDROME 9 		1 0 1 0.25 0 0
CUI: C4225288
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION
SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION 		1 0 1 0.25 0 0
CUI: C1847827
Disease: LIG4 Syndrome
LIG4 Syndrome 		2 0 1 0.20 0 0
CUI: C2004632
Disease: aberrant right subclavian artery
aberrant right subclavian artery 		2 0 1 0.20 0 0
CUI: C2118097
Disease: Agonadism
Agonadism 		2 0 1 0.20 0 0
CUI: C3542022
Disease: SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME
SHORT STATURE, ONYCHODYSPLASIA, FACIAL DYSMORPHISM, AND HYPOTRICHOSIS SYNDROME 		2 0 1 0.20 0 0
CUI: C1970416
Disease: XFE Progeroid Syndrome
XFE Progeroid Syndrome 		3 3 1 0.17 1 0.11
CUI: C1970816
Disease: Hypoplastic sacrum
Hypoplastic sacrum 		3 0 1 0.17 0 0
CUI: C0342573
Disease: PITUITARY DWARFISM I
PITUITARY DWARFISM I 		25 0 4 0.16 0 0
CUI: C1860105
Disease: Severe short-limb dwarfism
Severe short-limb dwarfism 		5 0 1 0.12 0 0
CUI: C1720811
Disease: Tumor of Rete Testis
Tumor of Rete Testis 		6 0 1 0.11 0 0
CUI: C3827253
Disease: Classical Glioblastoma
Classical Glioblastoma 		6 0 1 0.11 0 0
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		8 31 1 9.1E-02 2 5.6E-02
CUI: C1328440
Disease: Abnormality of amino acid metabolism
Abnormality of amino acid metabolism 		8 0 1 9.1E-02 0 0
CUI: C4023759
Disease: Flat nasal alae
Flat nasal alae 		8 0 1 9.1E-02 0 0
CUI: C0241703
Disease: High pitched voice
High pitched voice 		35 0 3 8.3E-02 0 0
CUI: C1968565
Disease: Numerous pigmented freckles
Numerous pigmented freckles 		9 0 1 8.3E-02 0 0
CUI: C1858732
Disease: Malar prominence
Malar prominence 		10 0 1 7.7E-02 0 0
CUI: C0241267
Disease: Absence of subcutaneous fat
Absence of subcutaneous fat 		11 0 1 7.1E-02 0 0
CUI: C1837758
Disease: Bird-like facies
Bird-like facies 		12 0 1 6.7E-02 0 0
CUI: C1968564
Disease: Defective DNA repair after ultraviolet radiation damage
Defective DNA repair after ultraviolet radiation damage 		12 0 1 6.7E-02 0 0
CUI: C4025579
Disease: Large beaked nose
Large beaked nose 		13 0 1 6.2E-02 0 0