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.
Yemenite deaf-blind hypopigmentation syndrome
disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 1 3 0.330 strong 1.000 4 3 1999 2012
CUI: C1335911
Disease: Salivary Gland Sialoblastoma
Salivary Gland Sialoblastoma
disease Neoplasms; Stomatognathic Diseases Neoplastic Process 1 0.010 None 1.000 1 2016 2016
CUI: C1861799
Disease: Catatrichy
Catatrichy
disease Skin and Connective Tissue Diseases Disease or Syndrome 1 0.010 None 1.000 1 2012 2012
CUI: C3266028
Disease: Pigmented actinic keratosis
Pigmented actinic keratosis
disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 1 0.010 None 1.000 1 2018 2018
CUI: C4022600
Disease: Peripheral amyelination
Peripheral amyelination
disease Congenital Abnormality 1 0.010 None 1.000 1 2012 2012
CUI: C4023430
Disease: Long-segment aganglionic megacolon
Long-segment aganglionic megacolon
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality 1 0.100 None 0
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome 2 22 0.900 definitive 1.000 17 22 1990 2017
CUI: C0334266
Disease: Transitional cell papilloma, benign
Transitional cell papilloma, benign
disease Neoplasms Neoplastic Process 2 0.010 None 1.000 1 2017 2017
CUI: C4023373
Disease: Demyelinating sensory neuropathy
Demyelinating sensory neuropathy
disease Disease or Syndrome 2 1 0.100 None 0 1
Morphological abnormality of the inner ear
phenotype Anatomical Abnormality 2 1 0.100 None 0 1
CUI: C4023387
Disease: Dilated vestibule of the inner ear
Dilated vestibule of the inner ear
disease Anatomical Abnormality 2 1 0.100 None 0
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nervous System Diseases Disease or Syndrome 3 7 0.930 None 1.000 13 7 1998 2018
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 3 5 0.700 None 1.000 5 5 1998 2011
CUI: C0206673
Disease: Syringoma
Syringoma
disease Neoplasms Neoplastic Process 3 0.030 None 0.333 3 2017 2019
Diffuse midline glioma, point mutation K27M in histone H3
disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2017 2017
CUI: C4316813
Disease: Dystopia canthorum
Dystopia canthorum
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 3 0.010 None 1.000 1 2014 2014
CUI: C4479552
Disease: 46,XX SEX REVERSAL 4
46,XX SEX REVERSAL 4
disease Congenital Abnormality 3 2 0.010 None < 0.001 1 2004 2004
Hypoplasia of the semicircular canal
phenotype Finding 3 0.100 None 0
CUI: C0334444
Disease: Spindle Cell Melanoma
Spindle Cell Melanoma
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2017 2017
CUI: C1304300
Disease: Skin Nodular Basal Cell Carcinoma
Skin Nodular Basal Cell Carcinoma
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2020 2020
CUI: C4083056
Disease: Basal cell carcinoma, nodular
Basal cell carcinoma, nodular
disease Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2020 2020
CUI: C1836742
Disease: Absent brainstem auditory responses
Absent brainstem auditory responses
phenotype Finding 4 1 0.100 None 0
CUI: C1843168
Disease: Myelin outfoldings
Myelin outfoldings
phenotype Finding 4 0.100 None 0
CUI: C3278204
Disease: Dysmyelinating leukodystrophy
Dysmyelinating leukodystrophy
phenotype Finding 4 2 0.100 None 0
CUI: C1306726
Disease: Congenital naevus
Congenital naevus
disease Neoplastic Process 5 1 0.010 None 1.000 1 2012 2012