Mitochondria Phenome Knowledgebase

Phenotypic Feature Deglutition-disorders finds 29 Gene-Feature associations that are associated with 29 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Deglutition-disorders dysphagia gastrointestinal 11204280
ATP7B 277900 Deglutition-disorders dysphagia; solid food gastrointestinal 11086396 15557537
COX10 220110 Deglutition-disorders swallowing difficulties gastrointestinal 2834526
CYP27A1 213700 Deglutition-disorders difficulty swallowing; dysphagia gastrointestinal 11903362 16157755
DMPK 160900 Deglutition-disorders swallowing difficulties; esophageal hypotonia; esophageal sphincter abnormal; dysphagia; poor swallowing; pharyngoesophageal insfficiency; dyscoordinated swallowing gastrointestinal 9521960 10935840 15770660
ECGF1 603041 Deglutition-disorders dysphagia; oropharyngeal dysfunction gastrointestinal 16178026 16198108 16294144 16530527
FXN 229300 Deglutition-disorders dysphagia; dysphagia to liquids; solid food dysphagia gastrointestinal 11425956 12745158 15376485 16344344
GCDH 231670 Deglutition-disorders swallowing impaired gastrointestinal 12888985
GDAP1 607706 Deglutition-disorders dysphagia gastrointestinal 12601710
HD 143100 Deglutition-disorders asphyxia; aspiration; choking; dysphagia; swallowing difficulty; oropharyngeal dysphagia; misdeglutition gastrointestinal 8474490 9443350 10023121 10483387 10644798 15121228 15526960
MPV17 256810 Deglutition-disorders swallowing difficulties gastrointestinal 10518083
NDUFA12L 252010 Deglutition-disorders dysphagia gastrointestinal 16200211
NDUFS3 252010 Deglutition-disorders oral pharyngeal motor dysfunction gastrointestinal 14729820
NDUFS4 252010 Deglutition-disorders dysphagia gastrointestinal 12616398
PANK2 234200 Deglutition-disorders dysphagia gastrointestinal 7503394 15747360
PANK2 607236 Deglutition-disorders dysphagia gastrointestinal 7898702 14638969
PARK7 105500 Deglutition-disorders dysphagia; progressive gastrointestinal 16240358
PDHA1 312170 Deglutition-disorders lost the ability to swallow; swallowing disturbance gastrointestinal 9686362 15558317
PEO1 609286 Deglutition-disorders dysphagia gastrointestinal 15258213
POLG 157640 Deglutition-disorders dysphagia gastrointestinal 2067633 15534189
POLG 258450 Deglutition-disorders dysphagia gastrointestinal 15477547 16621917 16715201
POLG 607459 Deglutition-disorders difficulties swallowing; dysphagia gastrointestinal 12565911
SDHC 605373 Deglutition-disorders dysphagia; neck tumor related gastrointestinal 15342702
SDHD 168000 Deglutition-disorders dysphagia gastrointestinal 12218630
SLC25A4 609283 Deglutition-disorders solid food dysphagia gastrointestinal 11756613
SOD1 105400 Deglutition-disorders bulbar involvement; bulbar palsy related; dysphagia gastrointestinal 7624031 9455977 9455983 10751275 10809943 14759637 15235802 16036438 16423367
SPAST 182601 Deglutition-disorders dysphagia gastrointestinal 11843700
SPG7 607259 Deglutition-disorders swallowing difficulties gastrointestinal 9634528 16534102
SURF1 220110 Deglutition-disorders for liquids; delayed swallowing gastrointestinal 15214016 16222681
TIMM8A 304700 Deglutition-disorders dysphagia gastrointestinal 8841189 11449109
TIMM8A 311150 Deglutition-disorders gastrointestinal 11803487
TK2 609560 Deglutition-disorders dysphagia gastrointestinal 12682338
WFS1 222300 Deglutition-disorders dysphagia; swallowing defect gastrointestinal 15277431

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