Source: INFERRED ×
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: C0282529
Disease: Chondrodysplasia Punctata, Rhizomelic
Chondrodysplasia Punctata, Rhizomelic 		1 0 1 1.00 0 0
CUI: C2025392
Disease: Polar cataract
Polar cataract 		1 0 1 1.00 0 0
CUI: C3550273
Disease: PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER) 		1 2 1 1.00 1 0.33
CUI: C4225237
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5 		1 0 1 1.00 0 0
CUI: C4025679
Disease: Stippled chondral calcification
Stippled chondral calcification 		2 0 1 0.50 0 0
CUI: C1859235
Disease: Intrahepatic biliary dysgenesis
Intrahepatic biliary dysgenesis 		3 0 1 0.33 0 0
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus 		7 0 1 0.14 0 0
CUI: C2676026
Disease: Optic nerve dysplasia
Optic nerve dysplasia 		7 0 1 0.14 0 0
CUI: C4023042
Disease: Abnormality of the mitochondrion
Abnormality of the mitochondrion 		10 0 1 1.0E-01 0 0
CUI: C1837082
Disease: Metaphyseal cupping
Metaphyseal cupping 		13 0 1 7.7E-02 0 0
CUI: C1303007
Disease: Brushfield spots
Brushfield spots 		14 0 1 7.1E-02 0 0
CUI: C3279397
Disease: Very long chain fatty acid accumulation
Very long chain fatty acid accumulation 		15 0 1 6.7E-02 0 0
CUI: C4023786
Disease: Elevated levels of phytanic acid
Elevated levels of phytanic acid 		15 0 1 6.7E-02 0 0
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		18 0 1 5.6E-02 0 0
CUI: C1856660
Disease: Abnormality of the helix
Abnormality of the helix 		21 0 1 4.8E-02 0 0
CUI: C0162285
Disease: Edema of eyelid
Edema of eyelid 		22 0 1 4.5E-02 0 0
CUI: C0030044
Disease: Acrocephaly
Acrocephaly 		23 0 1 4.3E-02 0 0
CUI: C1857790
Disease: Thoracic scoliosis
Thoracic scoliosis 		23 0 1 4.3E-02 0 0
CUI: C0039239
Disease: Sinus Tachycardia
Sinus Tachycardia 		25 0 1 4.0E-02 0 0
CUI: C0878638
Disease: Abnormality of the tongue
Abnormality of the tongue 		25 0 1 4.0E-02 0 0
CUI: C1843392
Disease: Death in childhood
Death in childhood 		25 0 1 4.0E-02 0 0
CUI: C0685891
Disease: Congenital hypoplasia of thymus
Congenital hypoplasia of thymus 		28 0 1 3.6E-02 0 0
CUI: C1859126
Disease: Stippled epiphyses
Stippled epiphyses 		28 0 1 3.6E-02 0 0
CUI: C1836184
Disease: Short femoral neck
Short femoral neck 		31 0 1 3.2E-02 0 0
CUI: C0009691
Disease: Congenital cataract
Congenital cataract 		32 0 1 3.1E-02 0 0