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: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		3 117 1 0.33 1 8.5E-03
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		31 38 1 3.2E-02 1 2.6E-02
CUI: C0013132
Disease: Drooling
Drooling 		14 14 1 7.1E-02 1 7.1E-02
CUI: C0016202
Disease: Flatfoot
Flatfoot 		30 38 1 3.3E-02 1 2.6E-02
CUI: C0017601
Disease: Glaucoma
Glaucoma 		6 5 1 0.17 1 0.20
CUI: C0017639
Disease: Gliosis
Gliosis 		4 3 1 0.25 1 0.33
CUI: C0018672
Disease: Head Banging
Head Banging 		3 3 1 0.33 1 0.33
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		63 77 1 1.6E-02 1 1.3E-02
CUI: C0023221
Disease: Leg Length Inequality
Leg Length Inequality 		6 6 1 0.17 1 0.17
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		18 0 1 5.6E-02 0 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		336 0 1 3.0E-03 0 0
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		67 0 1 1.5E-02 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		8 11 1 0.12 1 9.1E-02
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		1 1 1 1.00 1 1.00
CUI: C0031900
Disease: Pierre Robin Syndrome
Pierre Robin Syndrome 		3 3 1 0.33 1 0.33
CUI: C0035300
Disease: Abnormal retinal morphology
Abnormal retinal morphology 		5 8 1 0.20 1 0.12
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		43 0 1 2.3E-02 0 0
CUI: C0037315
Disease: Sleep Apnea Syndromes
Sleep Apnea Syndromes 		8 13 1 0.12 1 7.7E-02
CUI: C0040953
Disease: Trichotillomania
Trichotillomania 		4 4 1 0.25 1 0.25
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		1 1 1 1.00 1 1.00
CUI: C0221357
Disease: Brachydactyly
Brachydactyly 		30 39 1 3.3E-02 1 2.6E-02
CUI: C0239234
Disease: Low set ears
Low set ears 		56 0 1 1.8E-02 0 0
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		5 5 1 0.20 1 0.20
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		10 11 1 1.0E-01 1 9.1E-02
CUI: C0265341
Disease: Rieger syndrome
Rieger syndrome 		2 0 1 0.50 0 0