Phenotype: Keratoconjunctivitis (HP:0001096)
Associated genes and diseases:
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: SREBF1
disease_id: OMIM:158310
disease_name: MUCOEPITHELIAL DYSPLASIA, HEREDITARY
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
gene_symbol: UROS
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: GATA1
disease_id: ORPHA:79277
disease_name: Congenital erythropoietic porphyria
CEP
Günther disease
gene_symbol: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: SCN9A
disease_id: OMIM:133020
disease_name: ERYTHERMALGIA, PRIMARY
gene_symbol: GJB6
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: ORPHA:477
disease_name: KID syndrome
Ichthyosis hystrix Rheydt type
KID/HID syndrome
Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome
Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome
Senter syndrome
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: IARS2
disease_id: OMIM:616007
disease_name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
gene_symbol: ERCC8
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: ERCC6
disease_id: ORPHA:90324
disease_name: Cockayne syndrome type 3
Cockayne syndrome type III
gene_symbol: COL17A1
disease_id: ORPHA:293381
disease_name: Epithelial recurrent erosion dystrophy
Dystrophia Helsinglandica
Dystrophia Smolandiensis
ERED
Recurrent hereditary corneal erosions
gene_symbol: GMPPA
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: TRAPPC11
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: AAAS
disease_id: ORPHA:869
disease_name: Triple A syndrome
2A syndrome
3A syndrome
4A syndrome
AAA syndrome
Achalasia-addisonianism-alacrima syndrome
Adrenal insufficiency-achalasia-alacrima syndrome
Allgrove syndrome
Double A syndrome
Quaternary A syndrome
gene_symbol: MPLKIP
disease_id: OMIM:234050
disease_name: TRICHOTHIODYSTROPHY 4, NONPHOTOSENSITIVE
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GSN
disease_id: ORPHA:85448
disease_name: AGel amyloidosis
Familial amyloid polyneuropathy type IV
Familial amyloidosis, Finnish type
Gelsolin amyloidosis
Hereditary amyloidosis, Finnish type
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: MAB21L1
disease_id: OMIM:618479
disease_name: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME
gene_symbol: MAB21L1
disease_id: ORPHA:495875
disease_name: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
gene_symbol: ATP2A2
disease_id: ORPHA:218
disease_name: Darier disease
Darier-White disease
Keratosis follicularis
gene_symbol: LBR
disease_id: ORPHA:779
disease_name: Reynolds syndrome
Primary biliary cirrhosis and systemic scleroderma
gene_symbol: RNF125
disease_id: OMIM:616260
disease_name: TENORIO SYNDROME
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: OMIM:601675
disease_name: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE
gene_symbol: ERCC2
disease_id: OMIM:278730
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RECQL
disease_id: OMIM:620370
disease_name: RECON PROGEROID SYNDROME
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: LYZ
disease_id: OMIM:620658
disease_name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5
gene_symbol: FBN1
disease_id: OMIM:616914
disease_name: MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME
gene_symbol: AEBP1
disease_id: ORPHA:536532
disease_name: Classical-like Ehlers-Danlos syndrome type 2
AEBP1-related EDS
AEBP1-related Ehlers-Danlos syndrome
Classical-like EDS type 2
clEDS type 2
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease