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: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		12 0 2 0.15 0 0
CUI: C1968999
Disease: Rib segmentation abnormalities
Rib segmentation abnormalities 		12 0 2 0.15 0 0
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw 		5 0 1 0.14 0 0
CUI: C1859773
Disease: Microphthalmia, Syndromic 3
Microphthalmia, Syndromic 3 		5 0 1 0.14 0 0
CUI: C4551905
Disease: Pulmonary Venous Return Anomaly
Pulmonary Venous Return Anomaly 		14 0 2 0.13 0 0
CUI: C2677299
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder) 		6 0 1 0.12 0 0
CUI: C2751608
Disease: Pituitary Hormone Deficiency, Combined, 1
Pituitary Hormone Deficiency, Combined, 1 		6 0 1 0.12 0 0
CUI: C0013393
Disease: Dysostoses
Dysostoses 		16 0 2 0.12 0 0
CUI: C0015411
Disease: Eye Manifestations
Eye Manifestations 		7 0 1 0.11 0 0
CUI: C4022751
Disease: Ectopic anterior pituitary gland
Ectopic anterior pituitary gland 		7 0 1 0.11 0 0
CUI: C4024171
Disease: Abnormality of secondary sexual hair
Abnormality of secondary sexual hair 		7 0 1 0.11 0 0
CUI: C4511237
Disease: Butterfly-shaped pigmentary macular dystrophy
Butterfly-shaped pigmentary macular dystrophy 		7 0 1 0.11 0 0
CUI: C1840382
Disease: Abnormality of the ureter
Abnormality of the ureter 		19 0 2 1.0E-01 0 0
CUI: C1855052
Disease: MICROPHTHALMIA, ISOLATED 1
MICROPHTHALMIA, ISOLATED 1 		8 0 1 1.0E-01 0 0
CUI: C3495417
Disease: Hemifacial microsomia
Hemifacial microsomia 		8 0 1 1.0E-01 0 0
CUI: C3826462
Disease: Depression in children
Depression in children 		8 0 1 1.0E-01 0 0
CUI: C4021249
Disease: Anterior pituitary agenesis
Anterior pituitary agenesis 		8 0 1 1.0E-01 0 0
CUI: C4024159
Disease: Aplasia/Hypoplasia involving the nose
Aplasia/Hypoplasia involving the nose 		8 0 1 1.0E-01 0 0
CUI: C4551977
Disease: Microphthalmos, Autosomal Recessive
Microphthalmos, Autosomal Recessive 		8 0 1 1.0E-01 0 0
CUI: C0022360
Disease: Jaw Abnormalities
Jaw Abnormalities 		9 0 1 9.1E-02 0 0
CUI: C2931500
Disease: Microphthalmia and mental deficiency
Microphthalmia and mental deficiency 		9 0 1 9.1E-02 0 0
CUI: C4022448
Disease: Abnormal prolactin level
Abnormal prolactin level 		9 0 1 9.1E-02 0 0
CUI: C4255043
Disease: Microphthalmos co-occurrent with congenital ocular coloboma
Microphthalmos co-occurrent with congenital ocular coloboma 		9 0 1 9.1E-02 0 0
CUI: C4551715
Disease: Pigmentary retinopathy
Pigmentary retinopathy 		11 0 1 7.7E-02 0 0
CUI: C1859692
Disease: Decreased cervical spine mobility
Decreased cervical spine mobility 		12 0 1 7.1E-02 0 0