EDNRA, endothelin receptor type A, 1909

N. diseases: 427; N. variants: 29
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
0.910 Biomarker disease CTD_human
MANDIBULOFACIAL DYSOSTOSIS WITH ALOPECIA
0.910 CausalMutation disease CLINVAR
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
0.500 Biomarker phenotype GENOMICS_ENGLAND
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
0.500 Biomarker phenotype CTD_human
CUI: C0002170
Disease: Alopecia
Alopecia
0.400 Biomarker disease HPO
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 GeneticVariation disease UNIPROT
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.400 Biomarker disease GENOMICS_ENGLAND
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.400 Biomarker disease HPO
CUI: C0154723
Disease: Migraine with Aura
Migraine with Aura
0.110 Biomarker disease HPO
CUI: C0338480
Disease: Common Migraine
Common Migraine
0.110 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss
0.100 Biomarker disease HPO
CUI: C0025990
Disease: Micrognathism
Micrognathism
0.100 Biomarker disease HPO
CUI: C0027497
Disease: Nausea
Nausea
0.100 Biomarker phenotype HPO
CUI: C0040433
Disease: Tooth Crowding
Tooth Crowding
0.100 Biomarker phenotype HPO
CUI: C0041105
Disease: Trismus
Trismus
0.100 Biomarker disease HPO
CUI: C0042963
Disease: Vomiting
Vomiting
0.100 Biomarker phenotype HPO
CUI: C0085636
Disease: Photophobia
Photophobia
0.100 Biomarker phenotype HPO
CUI: C0239234
Disease: Low set ears
Low set ears
0.100 Biomarker disease HPO
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla
0.100 Biomarker disease HPO
CUI: C0395837
Disease: Stenosis of external auditory canal
Stenosis of external auditory canal
0.100 Biomarker disease HPO
CUI: C0751466
Disease: Phonophobia
Phonophobia
0.100 Biomarker disease HPO
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
0.100 Biomarker phenotype HPO
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes
0.100 Biomarker phenotype HPO
CUI: C1845447
Disease: Cupped ears (finding)
Cupped ears (finding)
0.100 Biomarker phenotype HPO