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: C0009451
Disease: Communicating Hydrocephalus
Communicating Hydrocephalus 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 0 1 5.9E-02 0 0
CUI: C0085631
Disease: Agitation
Agitation 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0151572
Disease: Reflex, Corneal, Decreased
Reflex, Corneal, Decreased 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0152207
Disease: Alternating Exotropia
Alternating Exotropia 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		1 0 1 5.9E-02 0 0
CUI: C0233283
Disease: Complete breech presentation
Complete breech presentation 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0270724
Disease: Infantile Neuroaxonal Dystrophy
Infantile Neuroaxonal Dystrophy 		1 22 1 5.9E-02 1 2.5E-02
CUI: C0271683
Disease: Polyneuropathy, Motor
Polyneuropathy, Motor 		1 3 1 5.9E-02 2 1.0E-01
CUI: C0341266
Disease: Diverticulosis of the duodenum
Diverticulosis of the duodenum 		1 1 1 5.9E-02 1 5.3E-02
CUI: C0432073
Disease: Defect of skull ossification
Defect of skull ossification 		1 0 1 5.9E-02 0 0
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		1 1 1 5.9E-02 1 5.3E-02
CUI: C1378703
Disease: Renal carcinoma
Renal carcinoma 		1 0 1 5.9E-02 0 0
CUI: C1835764
Disease: Vertebral arch anomaly
Vertebral arch anomaly 		1 1 1 5.9E-02 1 5.3E-02
CUI: C1835820
Disease: HOLOPROSENCEPHALY 7
HOLOPROSENCEPHALY 7 		1 2 1 5.9E-02 1 5.0E-02
CUI: C1836791
Disease: Tortuous cerebral arteries
Tortuous cerebral arteries 		1 1 1 5.9E-02 1 5.3E-02
CUI: C1846438
Disease: Hypoplastic facial bones
Hypoplastic facial bones 		1 0 1 5.9E-02 0 0
CUI: C1847886
Disease: Anomalous branches of internal carotid artery
Anomalous branches of internal carotid artery 		1 0 1 5.9E-02 0 0
CUI: C1849950
Disease: Agenesis of maxillary lateral incisor
Agenesis of maxillary lateral incisor 		1 1 1 5.9E-02 1 5.3E-02
CUI: C1850135
Disease: Flared metaphysis
Flared metaphysis 		1 0 1 5.9E-02 0 0
CUI: C1850816
Disease: Decreased/absent ankle reflexes
Decreased/absent ankle reflexes 		1 1 1 5.9E-02 1 5.3E-02
CUI: C1850853
Disease: Hyperextensibility at wrists
Hyperextensibility at wrists 		1 1 1 5.9E-02 1 5.3E-02
CUI: C1851347
Disease: Familial Mediterranean Fever, Autosomal Dominant
Familial Mediterranean Fever, Autosomal Dominant 		1 9 1 5.9E-02 1 3.7E-02
CUI: C1855899
Disease: Broad first metatarsal
Broad first metatarsal 		1 0 1 5.9E-02 0 0