Source: CLINVAR ×
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: C0345371
Disease: Hypoplasia of lower limb
Hypoplasia of lower limb 		2 3 2 0.50 3 0.60
CUI: C1837406
Disease: Hypoplasia involving bones of the upper limbs
Hypoplasia involving bones of the upper limbs 		2 3 2 0.50 3 0.60
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		1 9 1 0.25 1 7.7E-02
CUI: C0007097
Disease: Carcinoma
Carcinoma 		1 15 1 0.25 1 5.3E-02
CUI: C0016242
Disease: Vitreous floaters
Vitreous floaters 		1 0 1 0.25 0 0
CUI: C0018564
Disease: Hand deformities
Hand deformities 		1 2 1 0.25 2 0.40
CUI: C0020581
Disease: Hyphema
Hyphema 		1 0 1 0.25 0 0
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		1 0 1 0.25 0 0
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		1 0 1 0.25 0 0
CUI: C0233286
Disease: Frank Breech Presentation
Frank Breech Presentation 		1 0 1 0.25 0 0
CUI: C0265273
Disease: Achondrogenesis type 1A
Achondrogenesis type 1A 		1 0 1 0.25 0 0
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		1 0 1 0.25 0 0
CUI: C0271055
Disease: Rhegmatogenous retinal detachment
Rhegmatogenous retinal detachment 		1 0 1 0.25 0 0
CUI: C0271568
Disease: Laron Syndrome
Laron Syndrome 		1 18 1 0.25 1 4.5E-02
CUI: C0410529
Disease: Hypochondroplasia (disorder)
Hypochondroplasia (disorder) 		1 21 1 0.25 1 4.0E-02
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		1 0 1 0.25 0 0
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		1 0 1 0.25 0 0
CUI: C0544755
Disease: Genu varum
Genu varum 		6 6 2 0.25 1 1.0E-01
CUI: C0743924
Disease: Short fetal femur length
Short fetal femur length 		1 2 1 0.25 2 0.40
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		1 0 1 0.25 0 0
CUI: C1300257
Disease: Thanatophoric dysplasia, type 2
Thanatophoric dysplasia, type 2 		1 14 1 0.25 1 5.6E-02
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		1 0 1 0.25 0 0
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		1 0 1 0.25 0 0
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		1 0 1 0.25 0 0
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		1 0 1 0.25 0 0