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: C1842777
Disease: Recurrent upper and lower respiratory tract infections
Recurrent upper and lower respiratory tract infections 		2 2 2 0.40 2 0.29
CUI: C1846059
Disease: Roifman syndrome
Roifman syndrome 		2 7 2 0.40 2 0.17
CUI: C1859452
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I 		2 0 2 0.40 0 0
CUI: C0017152
Disease: Gastritis
Gastritis 		3 3 2 0.33 2 0.25
CUI: C0240116
Disease: Hyperactive patellar reflex
Hyperactive patellar reflex 		3 3 2 0.33 2 0.25
CUI: C0740852
Disease: Upper airway obstruction
Upper airway obstruction 		3 3 2 0.33 2 0.25
CUI: C4022983
Disease: Abnormal ciliary motility
Abnormal ciliary motility 		4 5 2 0.29 2 0.20
CUI: C0231678
Disease: Ulnar deviation of the wrist
Ulnar deviation of the wrist 		5 9 2 0.25 4 0.33
CUI: C0020450
Disease: Hyperemesis Gravidarum
Hyperemesis Gravidarum 		1 3 1 0.20 3 0.43
CUI: C0410180
Disease: Eichsfeld type congenital muscular dystrophy
Eichsfeld type congenital muscular dystrophy 		1 22 1 0.20 3 0.12
CUI: C0685381
Disease: Congenital hypoplasia of radius
Congenital hypoplasia of radius 		1 3 1 0.20 3 0.43
CUI: C1850325
Disease: Labial hypoplasia
Labial hypoplasia 		1 1 1 0.20 1 0.14
CUI: C1858427
Disease: Limited extraocular movements
Limited extraocular movements 		1 1 1 0.20 1 0.14
CUI: C1859292
Disease: Triangular-shaped open mouth
Triangular-shaped open mouth 		1 3 1 0.20 3 0.43
CUI: C1859442
Disease: Minimal subcutaneous fat
Minimal subcutaneous fat 		1 1 1 0.20 1 0.14
CUI: C1861331
Disease: Limited pronation/supination of forearm
Limited pronation/supination of forearm 		1 3 1 0.20 3 0.43
CUI: C4021338
Disease: Broad proximal phalanx of the hallux
Broad proximal phalanx of the hallux 		1 1 1 0.20 1 0.14
CUI: C4023422
Disease: Long palm
Long palm 		1 0 1 0.20 0 0
CUI: C4024780
Disease: Almond-shaped palpebral fissure
Almond-shaped palpebral fissure 		1 1 1 0.20 1 0.14
CUI: C4225276
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME
EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME 		1 14 1 0.20 1 5.0E-02
CUI: C4520847
Disease: Immunoglobulin G subclass deficiency (finding)
Immunoglobulin G subclass deficiency (finding) 		1 1 1 0.20 1 0.14
CUI: C4748127
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES
NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES 		1 6 1 0.20 1 8.3E-02
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		2 4 1 0.17 3 0.38
CUI: C0034372
Disease: Quadriplegia
Quadriplegia 		2 2 1 0.17 1 0.12
CUI: C0041105
Disease: Trismus
Trismus 		2 2 1 0.17 1 0.12