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: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0 33 0 0 1 2.6E-02
CUI: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1 		0 827 0 0 2 2.4E-03
CUI: C0029422
Disease: Osteochondrodysplasias
Osteochondrodysplasias 		0 26 0 0 1 3.2E-02
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors 		0 154 0 0 1 6.3E-03
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0 65 0 0 1 1.4E-02
CUI: C4014540
Disease: MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME
MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME 		0 4 0 0 2 0.25
CUI: C1266176
Disease: Atypical choroid plexus papilloma
Atypical choroid plexus papilloma 		1 0 1 0.11 0 0
CUI: C1333100
Disease: Squamous cell carcinoma of colon
Squamous cell carcinoma of colon 		1 0 1 0.11 0 0
CUI: C1857512
Disease: Temtamy syndrome
Temtamy syndrome 		1 5 1 0.11 1 1.0E-01
CUI: C1864690
Disease: Microphthalmia, Syndromic 5
Microphthalmia, Syndromic 5 		1 0 1 0.11 0 0
CUI: C1864720
Disease: MICROPHTHALMIA, ISOLATED 2
MICROPHTHALMIA, ISOLATED 2 		1 0 1 0.11 0 0
CUI: C1864721
Disease: Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Isolated, with Coloboma 3 		1 0 1 0.11 0 0
CUI: C1864722
Disease: Microphthalmia, Cataracts, and Iris Abnormalities
Microphthalmia, Cataracts, and Iris Abnormalities 		1 0 1 0.11 0 0
CUI: C1970237
Disease: Microphthalmia, Isolated 3
Microphthalmia, Isolated 3 		1 0 1 0.11 0 0
CUI: C3151440
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 		1 0 1 0.11 0 0
CUI: C3554592
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 		1 0 1 0.11 0 0
CUI: C3804969
Disease: Dysgnathia
Dysgnathia 		1 0 1 0.11 0 0
CUI: C3806742
Disease: MICROPHTHALMIA, SYNDROMIC 13
MICROPHTHALMIA, SYNDROMIC 13 		1 0 1 0.11 0 0
CUI: C4305151
Disease: Syndromic microphthalmia type 5
Syndromic microphthalmia type 5 		1 0 1 0.11 0 0
CUI: C0266677
Disease: Synotus
Synotus 		2 0 1 1.0E-01 0 0
CUI: C0685628
Disease: Full supernumerary rib
Full supernumerary rib 		2 0 1 1.0E-01 0 0
CUI: C1835895
Disease: RETINITIS PIGMENTOSA 33 (disorder)
RETINITIS PIGMENTOSA 33 (disorder) 		2 0 1 1.0E-01 0 0
CUI: C1859774
Disease: Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System
Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System 		2 0 1 1.0E-01 0 0
CUI: C3151380
Disease: SCHIZOPHRENIA 15
SCHIZOPHRENIA 15 		2 0 1 1.0E-01 0 0
CUI: C4021769
Disease: Short 2nd toe
Short 2nd toe 		2 0 1 1.0E-01 0 0