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: C0003862
Disease: Arthralgia
Arthralgia 		12 11 1 7.1E-02 1 7.7E-02
CUI: C0009806
Disease: Constipation
Constipation 		40 49 1 2.4E-02 1 2.0E-02
CUI: C0015310
Disease: Exotropia
Exotropia 		17 21 1 5.3E-02 1 4.3E-02
CUI: C0017639
Disease: Gliosis
Gliosis 		4 3 1 0.17 1 0.20
CUI: C0018965
Disease: Hematuria
Hematuria 		5 9 1 0.14 1 9.1E-02
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder 		4 5 1 0.17 1 0.14
CUI: C0020490
Disease: Hyperopia
Hyperopia 		16 17 1 5.6E-02 1 5.3E-02
CUI: C0024636
Disease: Malocclusion
Malocclusion 		6 6 1 0.12 1 0.12
CUI: C0025990
Disease: Micrognathism
Micrognathism 		46 52 1 2.1E-02 1 1.9E-02
CUI: C0026034
Disease: Microstomia
Microstomia 		8 0 1 1.0E-01 0 0
CUI: C0028738
Disease: Nystagmus
Nystagmus 		62 83 1 1.6E-02 1 1.2E-02
CUI: C0041974
Disease: Urethral Stenosis
Urethral Stenosis 		1 1 1 0.33 1 0.33
CUI: C0152421
Disease: Macrotia
Macrotia 		14 0 1 6.2E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		45 62 1 2.1E-02 1 1.6E-02
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		28 34 1 3.3E-02 1 2.8E-02
CUI: C0240538
Disease: Convex nasal ridge
Convex nasal ridge 		8 0 1 1.0E-01 0 0
CUI: C0241397
Disease: Triphalangeal thumb
Triphalangeal thumb 		4 15 1 0.17 1 5.9E-02
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media 		3 3 1 0.20 1 0.20
CUI: C0343643
Disease: Facial wart
Facial wart 		2 2 1 0.25 1 0.25
CUI: C0344541
Disease: Persistent pupillary membranes
Persistent pupillary membranes 		2 2 1 0.25 1 0.25
CUI: C0349588
Disease: Short stature
Short stature 		190 292 1 5.2E-03 1 3.4E-03
CUI: C0405124
Disease: Nuchal Cord
Nuchal Cord 		1 1 1 0.33 1 0.33
CUI: C0423224
Disease: Sunken eyes
Sunken eyes 		28 54 1 3.3E-02 1 1.8E-02
CUI: C0424711
Disease: Orbital separation diminished
Orbital separation diminished 		11 0 1 7.7E-02 0 0
CUI: C0431478
Disease: Posteriorly rotated ear
Posteriorly rotated ear 		21 23 1 4.3E-02 1 4.0E-02