Source: CURATED ×
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: C3151062
Disease: INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS
INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS 		1 0 1 0.50 0 0
CUI: C3279150
Disease: Functional hyposplenism
Functional hyposplenism 		1 0 1 0.50 0 0
CUI: C0038368
Disease: Stomatognathic Diseases
Stomatognathic Diseases 		2 0 1 0.33 0 0
CUI: C1704330
Disease: Dental Diseases
Dental Diseases 		2 0 1 0.33 0 0
CUI: C2750325
Disease: Oculootodental syndrome
Oculootodental syndrome 		2 0 1 0.33 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		6 0 1 0.14 0 0
CUI: C2677504
Disease: AUTISM, SUSCEPTIBILITY TO, 15
AUTISM, SUSCEPTIBILITY TO, 15 		8 0 1 0.11 0 0
CUI: C1691779
Disease: Sensory hearing loss
Sensory hearing loss 		11 0 1 8.3E-02 0 0
CUI: C4317009
Disease: Diverticular Diseases
Diverticular Diseases 		13 0 1 7.1E-02 0 0
CUI: C4505353
Disease: Diverticular Bleeding
Diverticular Bleeding 		13 0 1 7.1E-02 0 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		15 0 1 6.2E-02 0 0
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		16 0 1 5.9E-02 0 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties 		18 0 1 5.3E-02 0 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		23 0 1 4.2E-02 0 0
CUI: C3495676
Disease: Anorectal Malformations
Anorectal Malformations 		41 0 1 2.4E-02 0 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		96 0 1 1.0E-02 0 0
CUI: C1384666
Disease: hearing impairment
hearing impairment 		98 261 1 1.0E-02 2 7.4E-03
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		133 505 1 7.5E-03 5 9.7E-03
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		156 0 1 6.4E-03 0 0
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		217 0 1 4.6E-03 0 0
CUI: C0036572
Disease: Seizures
Seizures 		218 417 1 4.6E-03 1 2.3E-03
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		447 0 1 2.2E-03 0 0
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain 		0 11 0 0 2 9.1E-02
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		0 2 0 0 1 7.1E-02
CUI: C0003706
Disease: Arachnodactyly
Arachnodactyly 		0 24 0 0 4 0.12