SOX10, SRY-box transcription factor 10, 6663

N. diseases: 334; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.930 CausalMutation disease CLINVAR
CUI: C1836727
Disease: Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease 		0.930 Biomarker disease CTD_human
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 GeneticVariation disease CLINVAR
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 CausalMutation disease CLINVAR
CUI: C2750452
Disease: Waardenburg Syndrome, Type 4c
Waardenburg Syndrome, Type 4c 		0.900 Biomarker disease CTD_human
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 CausalMutation disease CLINVAR
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 Biomarker disease CTD_human
CUI: C2700405
Disease: WAARDENBURG SYNDROME, TYPE IIE
WAARDENBURG SYNDROME, TYPE IIE 		0.700 GeneticVariation disease CLINVAR
CUI: C3266898
Disease: Waardenburg Syndrome
Waardenburg Syndrome 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C2700265
Disease: Waardenburg Syndrome Type 2
Waardenburg Syndrome Type 2 		0.570 Biomarker disease CTD_human
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.550 Biomarker disease MGD
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 GeneticVariation disease CLINVAR
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.500 Biomarker disease HPO
CUI: C1848519
Disease: WAARDENBURG SYNDROME, TYPE 4A
WAARDENBURG SYNDROME, TYPE 4A 		0.500 CausalMutation disease CLINVAR
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.450 CausalMutation disease CLINVAR
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.450 Biomarker disease HPO
CUI: C0270922
Disease: Peripheral demyelinating neuropathy
Peripheral demyelinating neuropathy 		0.450 Biomarker disease GENOMICS_ENGLAND
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 CausalMutation disease CLINVAR
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.130 Biomarker disease HPO
CUI: C0040822
Disease: Tremor
Tremor 		0.110 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 Biomarker phenotype HPO
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.110 CausalMutation phenotype CLINVAR
CUI: C2364082
Disease: Sense of smell impaired
Sense of smell impaired 		0.110 Biomarker phenotype HPO