Phenotype: Xerostomia (HP:0000217)
Associated genes and diseases:
gene_symbol: SCN9A
disease_id: OMIM:133020
disease_name: ERYTHERMALGIA, PRIMARY
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: FGFR2
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: EDARADD
disease_id: OMIM:614941
disease_name: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: TP63
disease_id: OMIM:604292
disease_name: ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 3
gene_symbol: TP63
disease_id: ORPHA:1896
disease_name: EEC syndrome
Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
gene_symbol: CHRM3
disease_id: OMIM:100100
disease_name: PRUNE BELLY SYNDROME
gene_symbol: FGF10
disease_id: OMIM:180920
disease_name: APLASIA OF LACRIMAL AND SALIVARY GLANDS
gene_symbol: FGF10
disease_id: OMIM:620193
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME 3
gene_symbol: FGF10
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: SLC12A2
disease_id: OMIM:619080
disease_name: KILQUIST SYNDROME
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: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: FGFR3
disease_id: ORPHA:2363
disease_name: Lacrimoauriculodentodigital syndrome
LADD syndrome
LARD syndrome
Lacrimoauriculoradiodental syndrome
Levy-Hollister syndrome
gene_symbol: LBR
disease_id: ORPHA:779
disease_name: Reynolds syndrome
Primary biliary cirrhosis and systemic scleroderma
gene_symbol: CLDN10
disease_id: OMIM:617671
disease_name: HELIX SYNDROME
gene_symbol: ELOVL1
disease_id: OMIM:618527
disease_name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: CHMP2B
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: HNRNPA1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TAF15
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VAPB
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: SQSTM1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PRPH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TBK1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLT8D1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CFAP410
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PPARGC1A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: SOD1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: OPTN
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: DCTN1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: FIG4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PON3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEFH
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: PFN1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: MATR3
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TREM2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: VCP
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANG
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: TARDBP
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UBQLN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: GLE1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: FUS
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NEK1
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ATXN2
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: DAO
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ERBB4
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: ANXA11
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: UNC13A
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CCNF
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: CHCHD10
disease_id: ORPHA:803
disease_name: Amyotrophic lateral sclerosis
ALS
Charcot disease
Lou Gehrig disease
gene_symbol: NOD2
disease_id: ORPHA:90340
disease_name: Blau syndrome
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: CCR6
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: CCN2
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: IRF5
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: CAV1
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis
gene_symbol: HLA-DRB1
disease_id: ORPHA:220393
disease_name: Diffuse cutaneous systemic sclerosis
Diffuse cutaneous systemic scleroderma
Progressive cutaneous systemic scleroderma
Progressive cutaneous systemic sclerosis