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: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		2 8 2 0.50 3 0.27
CUI: C0264700
Disease: Acute Inferior Myocardial Infarction
Acute Inferior Myocardial Infarction 		3 0 2 0.40 0 0
CUI: C3553449
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B 		5 0 2 0.29 0 0
CUI: C0006262
Disease: Bronchial Fistula
Bronchial Fistula 		1 0 1 0.25 0 0
CUI: C0158564
Disease: Congenital vitreous anomaly
Congenital vitreous anomaly 		1 0 1 0.25 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 0.25 0 0
CUI: C0268357
Disease: Osteogenesis imperfecta, type 1A
Osteogenesis imperfecta, type 1A 		1 0 1 0.25 0 0
CUI: C0701825
Disease: Acute mastoiditis
Acute mastoiditis 		1 0 1 0.25 0 0
CUI: C1302424
Disease: Plasma cell myeloma/plasmacytoma
Plasma cell myeloma/plasmacytoma 		1 0 1 0.25 0 0
CUI: C1834953
Disease: Lumbar kyphoscoliosis
Lumbar kyphoscoliosis 		1 0 1 0.25 0 0
CUI: C1834961
Disease: Flattened, squared-off epiphyses of tubular bones
Flattened, squared-off epiphyses of tubular bones 		1 0 1 0.25 0 0
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		1 4 1 0.25 3 0.43
CUI: C1835442
Disease: Decreased cranial base ossification
Decreased cranial base ossification 		1 0 1 0.25 0 0
CUI: C1835444
Disease: Disc-like vertebral bodies
Disc-like vertebral bodies 		1 0 1 0.25 0 0
CUI: C1835446
Disease: Severe limb shortening
Severe limb shortening 		1 0 1 0.25 0 0
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 9 1 0.25 3 0.25
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		1 2 1 0.25 1 0.14
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		1 4 1 0.25 3 0.43
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		1 4 1 0.25 3 0.43
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		1 0 1 0.25 0 0
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		1 0 1 0.25 0 0
CUI: C1866688
Disease: Spondylometaphyseal dysplasia, Algerian type
Spondylometaphyseal dysplasia, Algerian type 		1 0 1 0.25 0 0
CUI: C2931320
Disease: T cell immunodeficiency primary
T cell immunodeficiency primary 		1 0 1 0.25 0 0
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		1 0 1 0.25 0 0
CUI: C4020803
Disease: Abnormal type II collagen
Abnormal type II collagen 		1 0 1 0.25 0 0