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: C1857665
Disease: Aplastic clavicle
Aplastic clavicle 		19 0 7 0.21 0 0
CUI: C4021174
Disease: Microtia, third degree
Microtia, third degree 		10 0 5 0.19 0 0
CUI: C0702139
Disease: Congenital absence of external ear
Congenital absence of external ear 		11 0 5 0.19 0 0
CUI: C0685776
Disease: Congenital absence of mandible
Congenital absence of mandible 		14 0 5 0.17 0 0
CUI: C0266009
Disease: Congenital absence of breast
Congenital absence of breast 		15 0 5 0.16 0 0
CUI: C1868578
Disease: Patellar aplasia
Patellar aplasia 		17 0 5 0.15 0 0
CUI: C0014588
Disease: Epispadias
Epispadias 		30 0 6 0.13 0 0
CUI: C1844527
Disease: Clitoral hypoplasia
Clitoral hypoplasia 		30 0 6 0.13 0 0
CUI: C0566899
Disease: Small labia majora
Small labia majora 		35 0 6 0.12 0 0
CUI: C1833144
Disease: Slender long bone
Slender long bone 		35 0 6 0.12 0 0
CUI: C0432103
Disease: Submucous cleft of hard palate
Submucous cleft of hard palate 		55 0 8 0.12 0 0
CUI: C1855843
Disease: Severe intrauterine growth retardation
Severe intrauterine growth retardation 		9 3 3 0.11 2 0.14
CUI: C1849295
Disease: Hypoplastic labia minora
Hypoplastic labia minora 		30 0 5 0.11 0 0
CUI: C1386048
Disease: Intrauterine retardation
Intrauterine retardation 		41 56 6 0.11 8 0.13
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		2 7 2 9.5E-02 2 0.11
CUI: C3280977
Disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 		2 0 2 9.5E-02 0 0
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		3 1 2 9.1E-02 1 7.7E-02
CUI: C1850658
Disease: Irregular femoral epiphysis
Irregular femoral epiphysis 		3 0 2 9.1E-02 0 0
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		3 0 2 9.1E-02 0 0
CUI: C1866675
Disease: Biconvex vertebral bodies
Biconvex vertebral bodies 		3 0 2 9.1E-02 0 0
CUI: C1969653
Disease: MUNGAN SYNDROME
MUNGAN SYNDROME 		15 0 3 9.1E-02 0 0
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		16 3 3 8.8E-02 3 0.23
CUI: C0575535
Disease: Thin clavicle
Thin clavicle 		4 0 2 8.7E-02 0 0
CUI: C1849953
Disease: Square pelvis bone
Square pelvis bone 		4 0 2 8.7E-02 0 0
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		4 11 2 8.7E-02 1 4.3E-02