Phenotype: Everted upper lip vermilion (HP:0010803)
Associated genes and diseases:
gene_symbol: EDARADD
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: EDAR
disease_id: OMIM:224900
disease_name: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
gene_symbol: KCNK4
disease_id: OMIM:618381
disease_name: FACIAL DYSMORPHISM, HYPERTRICHOSIS, EPILEPSY, INTELLECTUAL/DEVELOPMENTAL DELAY, AND GINGIVAL OVERGROWTH SYNDROME
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: AP4B1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4M1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4S1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: AP4E1
disease_id: ORPHA:280763
disease_name: Severe intellectual disability and progressive spastic paraplegia
AP4 deficiency syndrome
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: EDA
disease_id: ORPHA:181
disease_name: X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: EDA2R
disease_id: ORPHA:181
disease_name: X-linked hypohidrotic ectodermal dysplasia
Christ-Siemens-Touraine syndrome
X-linked anhidrotic ectodermal dysplasia
XHED
gene_symbol: CREBBP
disease_id: OMIM:618332
disease_name: MENKE-HENNEKAM SYNDROME 1
gene_symbol: KIF7
disease_id: OMIM:200990
disease_name: ACROCALLOSAL SYNDROME
gene_symbol: H4C9
disease_id: OMIM:619951
disease_name: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 4
gene_symbol: POGZ
disease_id: OMIM:616364
disease_name: WHITE-SUTTON SYNDROME
gene_symbol: RAI1
disease_id: OMIM:182290
disease_name: SMITH-MAGENIS SYNDROME
gene_symbol: SETD1A
disease_id: OMIM:619056
disease_name: NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: NAA10
disease_id: ORPHA:276432
disease_name: Ogden syndrome
Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: GBA1
disease_id: OMIM:608013
disease_name: GAUCHER DISEASE, PERINATAL LETHAL
gene_symbol: MAP1B
disease_id: OMIM:618918
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 9
gene_symbol: SMARCA4
disease_id: OMIM:614609
disease_name: COFFIN-SIRIS SYNDROME 4
gene_symbol: KCNH1
disease_id: ORPHA:420561
disease_name: Temple-Baraitser syndrome
Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
TMBTS