TaoMedAI/RareMedData huggingface dataset:
Phenotype: Absent pulse (HP:0032554)
Associated genes and diseases:
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
Phenotype: Bounding pulse (HP:0032555)
Associated genes and diseases:
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
Phenotype: Circumoral cyanosis (HP:0032556)
Associated genes and diseases:
gene_symbol: KCNQ2
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
gene_symbol: KCNQ3
disease_id: ORPHA:1949
disease_name: Self-limited neonatal epilepsy
BFNS
Benign familial neonatal convulsions
Benign familial neonatal epilepsy
Benign familial neonatal seizures
SeLNE
Phenotype: Absent sperm flagella (HP:0032558)
Associated genes and diseases:
gene_symbol: DNAH2
disease_id: OMIM:619094
disease_name: SPERMATOGENIC FAILURE 45
gene_symbol: CCDC34
disease_id: OMIM:620084
disease_name: SPERMATOGENIC FAILURE 76
gene_symbol: DNAH8
disease_id: OMIM:619095
disease_name: SPERMATOGENIC FAILURE 46
gene_symbol: CFAP44
disease_id: OMIM:617593
disease_name: SPERMATOGENIC FAILURE 20
gene_symbol: CFAP43
disease_id: OMIM:617592
disease_name: SPERMATOGENIC FAILURE 19
gene_symbol: CFAP65
disease_id: OMIM:618664
disease_name: SPERMATOGENIC FAILURE 40
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: DNAH1
disease_id: OMIM:617576
disease_name: SPERMATOGENIC FAILURE 18
gene_symbol: CFAP91
disease_id: OMIM:619177
disease_name: SPERMATOGENIC FAILURE 51
gene_symbol: QRICH2
disease_id: OMIM:618341
disease_name: SPERMATOGENIC FAILURE 35
gene_symbol: LRRC23
disease_id: OMIM:620848
disease_name: SPERMATOGENIC FAILURE 92
gene_symbol: TTC21A
disease_id: OMIM:618429
disease_name: SPERMATOGENIC FAILURE 37
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: DNAH10
disease_id: OMIM:619515
disease_name: SPERMATOGENIC FAILURE 56
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: DRC1
disease_id: OMIM:620222
disease_name: SPERMATOGENIC FAILURE 80
gene_symbol: CFAP47
disease_id: OMIM:301059
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 3
gene_symbol: SSX1
disease_id: OMIM:301099
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 5
gene_symbol: DZIP1
disease_id: OMIM:619102
disease_name: SPERMATOGENIC FAILURE 47
gene_symbol: SPEF2
disease_id: OMIM:618751
disease_name: SPERMATOGENIC FAILURE 43
gene_symbol: ARMC2
disease_id: OMIM:618433
disease_name: SPERMATOGENIC FAILURE 38
gene_symbol: CFAP251
disease_id: OMIM:618152
disease_name: SPERMATOGENIC FAILURE 33
gene_symbol: FSIP2
disease_id: OMIM:618153
disease_name: SPERMATOGENIC FAILURE 34
gene_symbol: CFAP58
disease_id: OMIM:619144
disease_name: SPERMATOGENIC FAILURE 49
gene_symbol: CFAP61
disease_id: OMIM:620409
disease_name: SPERMATOGENIC FAILURE 84
gene_symbol: STK33
disease_id: OMIM:620849
disease_name: OMIM:620849
gene_symbol: AK7
disease_id: OMIM:617965
disease_name: SPERMATOGENIC FAILURE 27
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: WDR19
disease_id: OMIM:619867
disease_name: SPERMATOGENIC FAILURE 72
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: AKAP3
disease_id: OMIM:620353
disease_name: SPERMATOGENIC FAILURE 82
Phenotype: Short sperm flagella (HP:0032559)
Associated genes and diseases:
gene_symbol: DNAH2
disease_id: OMIM:619094
disease_name: SPERMATOGENIC FAILURE 45
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: CCDC34
disease_id: OMIM:620084
disease_name: SPERMATOGENIC FAILURE 76
gene_symbol: DNAH8
disease_id: OMIM:619095
disease_name: SPERMATOGENIC FAILURE 46
gene_symbol: CFAP44
disease_id: OMIM:617593
disease_name: SPERMATOGENIC FAILURE 20
gene_symbol: CFAP43
disease_id: OMIM:617592
disease_name: SPERMATOGENIC FAILURE 19
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: CFAP65
disease_id: OMIM:618664
disease_name: SPERMATOGENIC FAILURE 40
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: DNAH1
disease_id: OMIM:617576
disease_name: SPERMATOGENIC FAILURE 18
gene_symbol: CFAP91
disease_id: OMIM:619177
disease_name: SPERMATOGENIC FAILURE 51
gene_symbol: QRICH2
disease_id: OMIM:618341
disease_name: SPERMATOGENIC FAILURE 35
gene_symbol: LRRC23
disease_id: OMIM:620848
disease_name: SPERMATOGENIC FAILURE 92
gene_symbol: TTC21A
disease_id: OMIM:618429
disease_name: SPERMATOGENIC FAILURE 37
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: DNAH10
disease_id: OMIM:619515
disease_name: SPERMATOGENIC FAILURE 56
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: CFAP69
disease_id: OMIM:617959
disease_name: SPERMATOGENIC FAILURE 24
gene_symbol: DRC1
disease_id: OMIM:620222
disease_name: SPERMATOGENIC FAILURE 80
gene_symbol: CFAP47
disease_id: OMIM:301059
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 3
gene_symbol: SSX1
disease_id: OMIM:301099
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 5
gene_symbol: DZIP1
disease_id: OMIM:619102
disease_name: SPERMATOGENIC FAILURE 47
gene_symbol: CFAP251
disease_id: OMIM:618152
disease_name: SPERMATOGENIC FAILURE 33
gene_symbol: FSIP2
disease_id: OMIM:618153
disease_name: SPERMATOGENIC FAILURE 34
gene_symbol: CFAP70
disease_id: OMIM:618670
disease_name: SPERMATOGENIC FAILURE 41
gene_symbol: CFAP58
disease_id: OMIM:619144
disease_name: SPERMATOGENIC FAILURE 49
gene_symbol: CFAP61
disease_id: OMIM:620409
disease_name: SPERMATOGENIC FAILURE 84
gene_symbol: STK33
disease_id: OMIM:620849
disease_name: OMIM:620849
gene_symbol: IFT74
disease_id: OMIM:619585
disease_name: SPERMATOGENIC FAILURE 58
gene_symbol: AK7
disease_id: OMIM:617965
disease_name: SPERMATOGENIC FAILURE 27
gene_symbol: BRWD1
disease_id: OMIM:620438
disease_name: CILIARY DYSKINESIA, PRIMARY, 51
gene_symbol: WDR19
disease_id: OMIM:619867
disease_name: SPERMATOGENIC FAILURE 72
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: AKAP3
disease_id: OMIM:620353
disease_name: SPERMATOGENIC FAILURE 82
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
Phenotype: Coiled sperm flagella (HP:0032560)
Associated genes and diseases:
gene_symbol: DNAH2
disease_id: OMIM:619094
disease_name: SPERMATOGENIC FAILURE 45
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: DNAH8
disease_id: OMIM:619095
disease_name: SPERMATOGENIC FAILURE 46
gene_symbol: CFAP44
disease_id: OMIM:617593
disease_name: SPERMATOGENIC FAILURE 20
gene_symbol: CFAP43
disease_id: OMIM:617592
disease_name: SPERMATOGENIC FAILURE 19
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: CFAP65
disease_id: OMIM:618664
disease_name: SPERMATOGENIC FAILURE 40
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: DNAH1
disease_id: OMIM:617576
disease_name: SPERMATOGENIC FAILURE 18
gene_symbol: CFAP91
disease_id: OMIM:619177
disease_name: SPERMATOGENIC FAILURE 51
gene_symbol: QRICH2
disease_id: OMIM:618341
disease_name: SPERMATOGENIC FAILURE 35
gene_symbol: LRRC23
disease_id: OMIM:620848
disease_name: SPERMATOGENIC FAILURE 92
gene_symbol: TTC21A
disease_id: OMIM:618429
disease_name: SPERMATOGENIC FAILURE 37
gene_symbol: DNHD1
disease_id: OMIM:619712
disease_name: SPERMATOGENIC FAILURE 65
gene_symbol: DNAH10
disease_id: OMIM:619515
disease_name: SPERMATOGENIC FAILURE 56
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: CFAP69
disease_id: OMIM:617959
disease_name: SPERMATOGENIC FAILURE 24
gene_symbol: DRC1
disease_id: OMIM:620222
disease_name: SPERMATOGENIC FAILURE 80
gene_symbol: SPACA1
disease_id: OMIM:620490
disease_name: SPERMATOGENIC FAILURE 85
gene_symbol: CFAP47
disease_id: OMIM:301059
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 3
gene_symbol: SSX1
disease_id: OMIM:301099
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 5
gene_symbol: CYLC1
disease_id: OMIM:301119
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 8
gene_symbol: SPEF2
disease_id: OMIM:618751
disease_name: SPERMATOGENIC FAILURE 43
gene_symbol: ARMC2
disease_id: OMIM:618433
disease_name: SPERMATOGENIC FAILURE 38
gene_symbol: CFAP251
disease_id: OMIM:618152
disease_name: SPERMATOGENIC FAILURE 33
gene_symbol: FSIP2
disease_id: OMIM:618153
disease_name: SPERMATOGENIC FAILURE 34
gene_symbol: CFAP58
disease_id: OMIM:619144
disease_name: SPERMATOGENIC FAILURE 49
gene_symbol: CFAP61
disease_id: OMIM:620409
disease_name: SPERMATOGENIC FAILURE 84
gene_symbol: STK33
disease_id: OMIM:620849
disease_name: OMIM:620849
gene_symbol: AK7
disease_id: OMIM:617965
disease_name: SPERMATOGENIC FAILURE 27
gene_symbol: WDR19
disease_id: OMIM:619867
disease_name: SPERMATOGENIC FAILURE 72
gene_symbol: CCDC146
disease_id: OMIM:620850
disease_name: OMIM:620850
gene_symbol: DNAH7
disease_id: OMIM:620356
disease_name: CILIARY DYSKINESIA, PRIMARY, 50
gene_symbol: AKAP3
disease_id: OMIM:620353
disease_name: SPERMATOGENIC FAILURE 82
gene_symbol: CFAP74
disease_id: OMIM:620197
disease_name: CILIARY DYSKINESIA, PRIMARY, 49, WITHOUT SITUS INVERSUS
gene_symbol: KCNU1
disease_id: OMIM:620196
disease_name: SPERMATOGENIC FAILURE 79
Phenotype: Microcephalic sperm head (HP:0032561)
Associated genes and diseases:
gene_symbol: USP26
disease_id: OMIM:301101
disease_name: SPERMATOGENIC FAILURE, X-LINKED, 6
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: CFAP69
disease_id: OMIM:617959
disease_name: SPERMATOGENIC FAILURE 24
gene_symbol: CFAP91
disease_id: OMIM:619177
disease_name: SPERMATOGENIC FAILURE 51
Phenotype: Tapered sperm head (HP:0032562)
Associated genes and diseases:
gene_symbol: IQCN
disease_id: OMIM:620170
disease_name: SPERMATOGENIC FAILURE 78
gene_symbol: TTC29
disease_id: OMIM:618745
disease_name: SPERMATOGENIC FAILURE 42
gene_symbol: ACTL9
disease_id: OMIM:619258
disease_name: SPERMATOGENIC FAILURE 53
gene_symbol: CATIP
disease_id: OMIM:619379
disease_name: SPERMATOGENIC FAILURE 54
gene_symbol: ARMC2
disease_id: OMIM:618433
disease_name: SPERMATOGENIC FAILURE 38
gene_symbol: CFAP69
disease_id: OMIM:617959
disease_name: SPERMATOGENIC FAILURE 24
gene_symbol: DNAH17
disease_id: OMIM:618643
disease_name: SPERMATOGENIC FAILURE 39
gene_symbol: CFAP70
disease_id: OMIM:618670
disease_name: SPERMATOGENIC FAILURE 41
Phenotype: Ileitis (HP:0032564)
Associated genes and diseases:
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: CARD8
disease_id: OMIM:619079
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30
gene_symbol: RELA
disease_id: OMIM:618287
disease_name: MUCOCUTANEOUS ULCERATION, CHRONIC
Phenotype: Vaginal mucosal ulceration (HP:0032565)
Associated genes and diseases:
gene_symbol: RELA
disease_id: OMIM:618287
disease_name: MUCOCUTANEOUS ULCERATION, CHRONIC
Phenotype: Oval macrocytosis (HP:0032566)
Associated genes and diseases:
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
Phenotype: Lipiduria (HP:0032567)
Associated genes and diseases:
gene_symbol: GLA
disease_id: OMIM:301500
disease_name: FABRY DISEASE
Phenotype: Urinary mulberry cells (HP:0032568)
Associated genes and diseases:
gene_symbol: GLA
disease_id: OMIM:301500
disease_name: FABRY DISEASE
Phenotype: Temporal bossing (HP:0032569)
Associated genes and diseases:
gene_symbol: CEP57
disease_id: OMIM:614114
disease_name: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 2
gene_symbol: POR
disease_id: OMIM:201750
disease_name: ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS
gene_symbol: FGFR3
disease_id: OMIM:602849
disease_name: MUENKE SYNDROME
Phenotype: Increased oocyte death (HP:0032571)
Associated genes and diseases:
gene_symbol: PANX1
disease_id: OMIM:618550
disease_name: OOCYTE MATURATION DEFECT 7
Phenotype: Abnormal urinary nucleobase concentration (HP:0032572)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: MOCOS
disease_id: OMIM:603592
disease_name: XANTHINURIA, TYPE II
gene_symbol: DPYD
disease_id: OMIM:274270
disease_name: DIHYDROPYRIMIDINE DEHYDROGENASE DEFICIENCY
gene_symbol: DPYD
disease_id: ORPHA:1675
disease_name: Dihydropyrimidine dehydrogenase deficiency
Familial pyrimidinemia
gene_symbol: DPYS
disease_id: OMIM:222748
disease_name: DIHYDROPYRIMIDINASE DEFICIENCY
gene_symbol: SLC28A1
disease_id: OMIM:618477
disease_name: URIDINE-CYTIDINEURIA
gene_symbol: CHUK
disease_id: OMIM:613630
disease_name: FETAL ENCASEMENT SYNDROME
gene_symbol: ATIC
disease_id: OMIM:608688
disease_name: AICA-RIBOSURIA DUE TO ATIC DEFICIENCY
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
gene_symbol: SLC25A21
disease_id: OMIM:618811
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 18
gene_symbol: ADSL
disease_id: OMIM:103050
disease_name: ADENYLOSUCCINASE DEFICIENCY
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
Phenotype: Elevated urinary cytidine (HP:0032573)
Associated genes and diseases:
gene_symbol: SLC28A1
disease_id: OMIM:618477
disease_name: URIDINE-CYTIDINEURIA
Phenotype: Elevated urinary uridine level (HP:0032574)
Associated genes and diseases:
gene_symbol: SLC28A1
disease_id: OMIM:618477
disease_name: URIDINE-CYTIDINEURIA
Phenotype: Decreased circulating 12-HETE (HP:0032575)
Associated genes and diseases:
gene_symbol: PLA2G4A
disease_id: OMIM:618372
disease_name: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
Phenotype: Myotonia of the face (HP:0012900)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SCN4A
disease_id: ORPHA:99734
disease_name: Myotonia fluctuans
Exercise-induced delayed-onset myotonia
Fluctuating myotonia
Phenotype: Myotonia of the jaw (HP:0012901)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
Phenotype: Myotonia of the lower limb (HP:0012902)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:99734
disease_name: Myotonia fluctuans
Exercise-induced delayed-onset myotonia
Fluctuating myotonia
Phenotype: Myotonia of the upper limb (HP:0012903)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SCN4A
disease_id: ORPHA:99734
disease_name: Myotonia fluctuans
Exercise-induced delayed-onset myotonia
Fluctuating myotonia
Phenotype: Cold-sensitive myotonia (HP:0012904)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
gene_symbol: SCN4A
disease_id: ORPHA:99734
disease_name: Myotonia fluctuans
Exercise-induced delayed-onset myotonia
Fluctuating myotonia
Phenotype: Euryblepharon (HP:0012905)
Associated genes and diseases:
gene_symbol: DLX4
disease_id: OMIM:616788
disease_name: OROFACIAL CLEFT 15
gene_symbol: DVL3
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: WNT5A
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: DVL1
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: FZD2
disease_id: ORPHA:3107
disease_name: Autosomal dominant Robinow syndrome
gene_symbol: CDH1
disease_id: OMIM:119580
disease_name: BLEPHAROCHEILODONTIC SYNDROME 1
gene_symbol: CDH1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: CTNND1
disease_id: OMIM:617681
disease_name: BLEPHAROCHEILODONTIC SYNDROME 2
gene_symbol: CTNND1
disease_id: ORPHA:1997
disease_name: Blepharo-cheilo-odontic syndrome
BCD syndrome
Blepharocheilodontic syndrome
Clefting-ectropion-conical teeth syndrome
Ectropion inferior-cleft lip and/or palate syndrome
Elschnig syndrome
Lagophthalmia-cleft lip and palate syndrome
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
Phenotype: Renal interstitial foam cells (HP:0032582)
Associated genes and diseases:
gene_symbol: LAMB2
disease_id: OMIM:614199
disease_name: NEPHROTIC SYNDROME, TYPE 5, WITH OR WITHOUT OCULAR ABNORMALITIES
Phenotype: Hand apraxia (HP:0032588)
Associated genes and diseases:
gene_symbol: CDKL5
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: NTNG1
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: GABBR2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: MECP2
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: SMC1A
disease_id: ORPHA:3095
disease_name: Atypical Rett syndrome
Atypical RTT
Rett syndrome variant
gene_symbol: PLP1
disease_id: ORPHA:280229
disease_name: Pelizaeus-Merzbacher disease in female carriers
Phenotype: Aplasia of the right hemidiaphragm (HP:0032592)
Associated genes and diseases:
gene_symbol: WT1
disease_id: OMIM:608978
disease_name: MEACHAM SYNDROME
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
Phenotype: Abnormal renal tubular epithelial morphology (HP:0032599)
Associated genes and diseases:
gene_symbol: UMOD
disease_id: OMIM:162000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 1
gene_symbol: RPGRIP1L
disease_id: OMIM:619113
disease_name: COACH SYNDROME 3
gene_symbol: REN
disease_id: OMIM:613092
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 4
gene_symbol: TMEM67
disease_id: OMIM:613550
disease_name: NEPHRONOPHTHISIS 11
gene_symbol: XPNPEP3
disease_id: OMIM:613159
disease_name: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1
gene_symbol: GLIS2
disease_id: OMIM:611498
disease_name: NEPHRONOPHTHISIS 7
gene_symbol: NUP107
disease_id: OMIM:618348
disease_name: GALLOWAY-MOWAT SYNDROME 7
gene_symbol: NUP107
disease_id: OMIM:616730
disease_name: NEPHROTIC SYNDROME, TYPE 11
gene_symbol: NUP133
disease_id: OMIM:618349
disease_name: GALLOWAY-MOWAT SYNDROME 8
gene_symbol: CLCN5
disease_id: OMIM:310468
disease_name: NEPHROLITHIASIS, X-LINKED RECESSIVE, WITH RENAL FAILURE
gene_symbol: CLCN5
disease_id: OMIM:308990
disease_name: PROTEINURIA, LOW MOLECULAR WEIGHT, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: NPHP4
disease_id: OMIM:606966
disease_name: NEPHRONOPHTHISIS 4
gene_symbol: VPS33B
disease_id: OMIM:208085
disease_name: ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 1
gene_symbol: MYO1E
disease_id: OMIM:614131
disease_name: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
gene_symbol: CEP83
disease_id: OMIM:615862
disease_name: NEPHRONOPHTHISIS 18
gene_symbol: MUC1
disease_id: OMIM:174000
disease_name: TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2
gene_symbol: NPHP3
disease_id: OMIM:604387
disease_name: NEPHRONOPHTHISIS 3
gene_symbol: NPHP1
disease_id: OMIM:256100
disease_name: NEPHRONOPHTHISIS 1
gene_symbol: NPHS1
disease_id: OMIM:256300
disease_name: NEPHROTIC SYNDROME, TYPE 1
Phenotype: Morning myoclonic jerks (HP:0007000)
Associated genes and diseases:
gene_symbol: EFHC1
disease_id: OMIM:254770
disease_name: EPILEPSY, MYOCLONIC JUVENILE
gene_symbol: EFHC1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRD
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CLCN2
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: GABRA1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: KCNQ3
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CILK1
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: JRK
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CACNB4
disease_id: ORPHA:307
disease_name: Juvenile myoclonic epilepsy
JME
Juvenile myoclonus epilepsy
gene_symbol: CACNB4
disease_id: OMIM:607682
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9
gene_symbol: PRICKLE1
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: CSTB
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
gene_symbol: SCARB2
disease_id: ORPHA:308
disease_name: Progressive myoclonic epilepsy type 1
EPM1
Progressive myoclonus epilepsy type 1
ULD
Unverricht-Lundborg disease
Phenotype: Loss of Purkinje cells in the cerebellar vermis (HP:0007001)
Associated genes and diseases:
gene_symbol: TSEN54
disease_id: OMIM:225753
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 4
gene_symbol: NOP56
disease_id: ORPHA:276198
disease_name: Spinocerebellar ataxia type 36
Asidan
SCA36
gene_symbol: CACNA1G
disease_id: OMIM:616795
disease_name: SPINOCEREBELLAR ATAXIA 42
gene_symbol: SACS
disease_id: OMIM:270550
disease_name: SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
gene_symbol: ATXN1
disease_id: ORPHA:98755
disease_name: Spinocerebellar ataxia type 1
SCA1
Phenotype: Dorsal column degeneration (HP:0007006)
Associated genes and diseases:
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
Phenotype: Cavitation of the basal ganglia (HP:0007007)
Associated genes and diseases:
gene_symbol: FTL
disease_id: OMIM:606159
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 3
Phenotype: Bilateral tonic-clonic seizure on awakening (HP:0007193)
Associated genes and diseases:
gene_symbol: CLCN2
disease_id: OMIM:607628
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 11
gene_symbol: EFHC1
disease_id: OMIM:607631
disease_name: EPILEPSY, JUVENILE ABSENCE, SUSCEPTIBILITY TO, 1
gene_symbol: CACNB4
disease_id: OMIM:607682
disease_name: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9