TaoMedAI/RareMedData huggingface dataset:
Phenotype: Premature atrial contractions (HP:0006699)
Associated genes and diseases:
gene_symbol: NRAS
disease_id: OMIM:613224
disease_name: NOONAN SYNDROME 6
gene_symbol: SCN5A
disease_id: OMIM:601154
disease_name: CARDIOMYOPATHY, DILATED, 1E
gene_symbol: GJA5
disease_id: OMIM:108770
disease_name: ATRIAL STANDSTILL 1
gene_symbol: TTN
disease_id: OMIM:604145
disease_name: CARDIOMYOPATHY, DILATED, 1G
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
gene_symbol: KCNE2
disease_id: OMIM:611493
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 4
gene_symbol: NAA10
disease_id: OMIM:300855
disease_name: OGDEN SYNDROME
gene_symbol: KCNA5
disease_id: OMIM:612240
disease_name: ATRIAL FIBRILLATION, FAMILIAL, 7
Phenotype: Partial duplication of the proximal phalanx of the 3rd finger (HP:0009970)
Associated genes and diseases:
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
Phenotype: Polydactyly affecting the 4th finger (HP:0009971)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
Phenotype: Complete duplication of phalanx of hand (HP:0009998)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: FANCC
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCE
disease_id: OMIM:600901
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP E
gene_symbol: FANCE
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: BCOR
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: FANCF
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCA
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCB
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: LEMD3
disease_id: ORPHA:1879
disease_name: Melorheostosis with osteopoikilosis
MSBD syndrome
Mixed sclerosing bone dystrophy