SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C4477049
Disease: Hypoplasia of the olfactory bulb
Hypoplasia of the olfactory bulb 		disease Congenital Abnormality 5 1 0.100 None 0 1
CUI: C0406803
Disease: Syringocystadenoma Papilliferum
Syringocystadenoma Papilliferum 		disease Neoplasms Neoplastic Process 6 0.010 None 1.000 1 2017 2017
CUI: C0546275
Disease: Hypoganglionosis
Hypoganglionosis 		disease Disease or Syndrome 6 1 0.010 None 1.000 1 2018 2018
CUI: C1833296
Disease: FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED
FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED 		disease Nutritional and Metabolic Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 6 6 0.010 None 1.000 1 2018 2018
CUI: C1866636
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C
CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 6 27 0.010 None 1.000 1 2014 2014
CUI: C0235857
Disease: Decreased lacrimation
Decreased lacrimation 		phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Nervous System Diseases Finding 6 1 0.100 None 0
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
WAARDENBURG SYNDROME, TYPE IIA 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 7 26 0.140 None 1.000 5 4 2012 2019
CUI: C0334439
Disease: Malignant desmoplastic melanoma
Malignant desmoplastic melanoma 		disease Neoplasms Neoplastic Process 7 1 0.010 None 1.000 1 2020 2020
CUI: C0346027
Disease: Eccrine epithelioma
Eccrine epithelioma 		disease Neoplastic Process 7 0.010 None < 0.001 1 2019 2019
CUI: C0348489
Disease: Other sphingolipidosis
Other sphingolipidosis 		disease Nutritional and Metabolic Diseases Disease or Syndrome 7 0.200 None 1.000 1 2015 2015
CUI: C1836737
Disease: White eyebrow
White eyebrow 		phenotype Finding 7 0.100 None 0
CUI: C1855331
Disease: Olfactory lobe agenesis
Olfactory lobe agenesis 		phenotype Finding 7 0.100 None 0
CUI: C4024927
Disease: Peripheral hypomyelination
Peripheral hypomyelination 		phenotype Finding 7 1 0.100 None 0
CUI: C0205854
Disease: Glandular Neoplasms
Glandular Neoplasms 		disease Neoplasms Neoplastic Process 8 0.010 None 1.000 1 2017 2017
CUI: C0345244
Disease: Neuronal intestinal dysplasia
Neuronal intestinal dysplasia 		disease Digestive System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2019 2019
CUI: C1260326
Disease: Dendritic Cell Sarcoma, Interdigitating
Dendritic Cell Sarcoma, Interdigitating 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 8 2 0.010 None 1.000 1 2017 2017
CUI: C1836736
Disease: White eyelashes
White eyelashes 		phenotype Finding 8 0.100 None 0
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 2 0.570 None 1.000 9 2007 2017
CUI: C0025160
Disease: Megacolon
Megacolon 		phenotype Digestive System Diseases Pathologic Function 9 9 0.100 None 0 2
CUI: C4274084
Disease: Pelizaeus Merzbacher like disease
Pelizaeus Merzbacher like disease 		disease Disease or Syndrome 10 0.020 None 1.000 2 2010 2011
CUI: C0334348
Disease: Hidradenoma Papilliferum
Hidradenoma Papilliferum 		disease Neoplasms Neoplastic Process 10 5 0.010 None 1.000 1 2017 2017
CUI: C0393808
Disease: Charcot-Marie-Tooth disease, X-linked, 1
Charcot-Marie-Tooth disease, X-linked, 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 10 82 0.010 None 1.000 1 2001 2001
CUI: C1856113
Disease: Mowat-Wilson syndrome
Mowat-Wilson syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome 10 93 0.010 None 1.000 1 2010 2010
CUI: C0393818
Disease: Congenital hypomyelinating neuropathy
Congenital hypomyelinating neuropathy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 10 0.010 None 1.000 1 1 2002 2002
CUI: C2936419
Disease: 46, XX Testicular Disorders of Sex Development
46, XX Testicular Disorders of Sex Development 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 11 1 0.010 None 1.000 1 2010 2010