Phenotype: Corneal ulceration (HP:0012804)
Associated genes and diseases:
gene_symbol: TAT
disease_id: OMIM:276600
disease_name: TYROSINEMIA, TYPE II
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
gene_symbol: NGLY1
disease_id: OMIM:615273
disease_name: CONGENITAL DISORDER OF DEGLYCOSYLATION
gene_symbol: KIFBP
disease_id: OMIM:609460
disease_name: GOLDBERG-SHPRINTZEN SYNDROME
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: PRDM12
disease_id: OMIM:616488
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
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: UROD
disease_id: ORPHA:95159
disease_name: Hepatoerythropoietic porphyria
HEP
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: LMNA
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
gene_symbol: ZMPSTE24
disease_id: ORPHA:740
disease_name: Hutchinson-Gilford progeria syndrome
HGPS
Progeria
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: RIPK4
disease_id: OMIM:263650
disease_name: BARTSOCAS-PAPAS SYNDROME
gene_symbol: NSD1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CBL
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAPK1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PROX1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SVEP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ANGPT2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LZTR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NF1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FAT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: EPHB4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN11
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: HRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ABCC9
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PMM2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: DCHS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SPRED1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CELSR1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RELN
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CDC42
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PIEZO1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FOXC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GATA2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RORC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RAF1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NAGA
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: LYVE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHOC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RRAS2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SPRED2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KIF11
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: BRAF
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RIT1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FLT4
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ARAP3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOX18
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PPP1CB
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJC2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TSC1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: TIE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ADAMTS3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: ERG
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: RASA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MAP2K1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SOS2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: SHANK3
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: FBXL7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KRAS
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: NRP2
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: MDFIC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CHD5
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: VEGFC
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: CCBE1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJA1
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: PTPN14
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: KIF7
disease_id: OMIM:153400
disease_name: LYMPHEDEMA-DISTICHIASIS SYNDROME
gene_symbol: GJB2
disease_id: OMIM:148210
disease_name: KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT
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: 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: 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: LAMA3
disease_id: ORPHA:2407
disease_name: Laryngo-onycho-cutaneous syndrome
LOC syndrome
LOGIC syndrome
Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
Shabbir syndrome