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: C4551570
Disease: 2-3 toe syndactyly
2-3 toe syndactyly 		85 0 1 1.1E-02 0 0
CUI: C4023115
Disease: 3-4 finger cutaneous syndactyly
3-4 finger cutaneous syndactyly 		3 0 1 0.12 0 0
CUI: C4025252
Disease: Abnormal nasal morphology
Abnormal nasal morphology 		34 0 1 2.6E-02 0 0
CUI: C4023573
Disease: Abnormal number of permanent teeth
Abnormal number of permanent teeth 		9 0 1 7.1E-02 0 0
CUI: C1837388
Disease: Abnormal pattern of respiration
Abnormal pattern of respiration 		20 0 1 4.0E-02 0 0
CUI: C4021800
Disease: Abnormality of dental enamel
Abnormality of dental enamel 		96 0 1 9.9E-03 0 0
CUI: C1859363
Disease: Abnormality of dental eruption
Abnormality of dental eruption 		10 0 1 6.7E-02 0 0
CUI: C4073190
Disease: Abnormality of masticatory muscle
Abnormality of masticatory muscle 		17 0 1 4.5E-02 0 0
CUI: C1862475
Disease: Abnormality of retinal pigmentation
Abnormality of retinal pigmentation 		215 0 1 4.5E-03 0 0
CUI: C4025329
Disease: Abnormality of the anus
Abnormality of the anus 		16 0 1 4.8E-02 0 0
CUI: C4025893
Disease: Abnormality of the clitoris
Abnormality of the clitoris 		3 0 1 0.12 0 0
CUI: C1861141
Disease: Abnormality of the middle ear
Abnormality of the middle ear 		5 0 1 1.0E-01 0 0
CUI: C4316811
Disease: Abnormality of the nasal septum
Abnormality of the nasal septum 		5 0 1 1.0E-01 0 0
CUI: C4025750
Disease: Abnormality of the nasopharynx
Abnormality of the nasopharynx 		10 0 1 6.7E-02 0 0
CUI: C3808249
Disease: Abnormality of the optic disc
Abnormality of the optic disc 		26 0 1 3.2E-02 0 0
CUI: C1846460
Disease: Abnormality of the outer ear
Abnormality of the outer ear 		95 0 1 1.0E-02 0 0
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		64 0 1 1.4E-02 0 0
CUI: C4025846
Disease: Abnormality of vision
Abnormality of vision 		127 0 1 7.6E-03 0 0
CUI: C0426868
Disease: Absence of hand
Absence of hand 		18 0 1 4.3E-02 0 0
CUI: C1858569
Disease: Absence of Stensen duct
Absence of Stensen duct 		4 0 1 0.11 0 0
CUI: C1843005
Disease: Absent eyelashes
Absent eyelashes 		21 0 1 3.8E-02 0 0
CUI: C0728895
Disease: Absent finger
Absent finger 		26 0 1 3.2E-02 0 0
CUI: C0425795
Disease: Absent nipple (finding)
Absent nipple (finding) 		7 0 1 8.3E-02 0 0
CUI: C0266011
Disease: Accessory nipple
Accessory nipple 		38 0 1 2.3E-02 0 0
CUI: C0001080
Disease: Achondroplasia
Achondroplasia 		46 0 1 2.0E-02 0 0