Phenotype: Esophagitis (HP:0100633)
Associated genes and diseases:
gene_symbol: MYH11
disease_id: OMIM:619350
disease_name: VISCERAL MYOPATHY 2
gene_symbol: ATP7A
disease_id: ORPHA:198
disease_name: Occipital horn syndrome
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: FERMT1
disease_id: ORPHA:2908
disease_name: Kindler epidermolysis bullosa
Congenital bullous poikiloderma
Kindler syndrome
Poikiloderma of Kindler
gene_symbol: MEN1
disease_id: OMIM:131100
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
gene_symbol: CARD8
disease_id: OMIM:619079
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30
gene_symbol: RPL11
disease_id: OMIM:612562
disease_name: DIAMOND-BLACKFAN ANEMIA 7
gene_symbol: TRAPPC11
disease_id: OMIM:615356
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 18
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: IARS1
disease_id: ORPHA:541423
disease_name: Growth delay-intellectual disability-hepatopathy syndrome
gene_symbol: SLC2A10
disease_id: ORPHA:3342
disease_name: Arterial tortuosity syndrome
ATS
gene_symbol: ADAMTSL2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: ADAMTS2
disease_id: ORPHA:1901
disease_name: Dermatosparaxis Ehlers-Danlos syndrome
Dermatosparaxis EDS
Ehlers-Danlos syndrome type 7C
Human dermatosparaxis EDS VIIC
dEDS
gene_symbol: TCF4
disease_id: ORPHA:2896
disease_name: Pitt-Hopkins syndrome
gene_symbol: GRB10
disease_id: ORPHA:96182
disease_name: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
UPD(7)mat
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: GLRB
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GLRA1
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: GPHN
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: ATAD1
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: SLC6A5
disease_id: ORPHA:3197
disease_name: Hereditary hyperekplexia
Congenital stiff man syndrome
Familial startle disease
Hereditary hyperexplexia
Kok disease
Stiff baby syndrome
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: LMX1B
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: STXBP1
disease_id: ORPHA:495818
disease_name: 9q33.3q34.11 microdeletion syndrome
Del(9)(q33.3q34.11)
Deletion 9q33.3q34.11
Monosomy 9q33.3q34.11
gene_symbol: PSPH
disease_id: ORPHA:79350
disease_name: 3-phosphoserine phosphatase deficiency, infantile/juvenile form
PSPH deficiency, infantile/juvenile form
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: TGFBR1
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR1
disease_id: OMIM:609192
disease_name: LOEYS-DIETZ SYNDROME 1
gene_symbol: IPO8
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
gene_symbol: TGFB2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB2
disease_id: OMIM:614816
disease_name: LOEYS-DIETZ SYNDROME 4
gene_symbol: TGFB3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: TGFB3
disease_id: OMIM:615582
disease_name: LOEYS-DIETZ SYNDROME 5
gene_symbol: SMAD2
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: ORPHA:60030
disease_name: Loeys-Dietz syndrome
Aortic aneurysm syndrome due to TGF-beta receptors anomalies
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY