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: C0345427
Disease: Woolly hair, congenital
Woolly hair, congenital 		5 0 5 0.38 0 0
CUI: C0154936
Disease: Pupillary abnormality
Pupillary abnormality 		18 1 6 0.24 1 0.12
CUI: C3502073
Disease: Woolly Hair, Autosomal Recessive
Woolly Hair, Autosomal Recessive 		3 0 3 0.23 0 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		23 0 6 0.20 0 0
CUI: C0343073
Disease: Wooly hair
Wooly hair 		19 0 5 0.19 0 0
CUI: C1857206
Disease: Sparse lateral eyebrow
Sparse lateral eyebrow 		20 0 5 0.18 0 0
CUI: C4014616
Disease: HYPOTRICHOSIS 13
HYPOTRICHOSIS 13 		2 0 2 0.15 0 0
CUI: C0151583
Disease: Abnormality of the cerebrospinal fluid
Abnormality of the cerebrospinal fluid 		3 0 2 0.14 0 0
CUI: C1873509
Disease: Hypotrichosis of the scalp
Hypotrichosis of the scalp 		12 0 3 0.14 0 0
CUI: C1850303
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 		4 0 2 0.13 0 0
CUI: C2931928
Disease: Mitochondrial cytopathy
Mitochondrial cytopathy 		4 0 2 0.13 0 0
CUI: C3279470
Disease: HYPOTRICHOSIS 8
HYPOTRICHOSIS 8 		13 0 3 0.13 0 0
CUI: C4476759
Disease: Stooped posture
Stooped posture 		6 0 2 0.12 0 0
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair 		35 0 5 0.12 0 0
CUI: C0018500
Disease: Hair Diseases
Hair Diseases 		17 0 3 0.11 0 0
CUI: C4021535
Disease: Infantile sensorineural hearing impairment
Infantile sensorineural hearing impairment 		7 0 2 0.11 0 0
CUI: C0029131
Disease: Abnormality of the optic nerve
Abnormality of the optic nerve 		18 11 3 0.11 5 0.36
CUI: C1863512
Disease: HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE
HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE 		19 0 3 0.10 0 0
CUI: C4721530
Disease: Congenital hypotrichia
Congenital hypotrichia 		19 0 3 0.10 0 0
CUI: C0263490
Disease: Brittle hair
Brittle hair 		45 0 5 9.4E-02 0 0
CUI: C0239831
Disease: Hand muscle weakness
Hand muscle weakness 		14 0 2 8.0E-02 0 0
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
Yellow mutant oculocutaneous albinism 		1 0 1 7.7E-02 0 0
CUI: C0271086
Disease: Toxic maculopathy
Toxic maculopathy 		1 0 1 7.7E-02 0 0
CUI: C0333008
Disease: Congenital hypopigmentation
Congenital hypopigmentation 		1 0 1 7.7E-02 0 0
CUI: C0346977
Disease: Secondary malignant neoplasm of spleen
Secondary malignant neoplasm of spleen 		1 0 1 7.7E-02 0 0