TaoMedAI/RareMedData huggingface dataset:
Phenotype: Geographic tongue (HP:0025252)
Associated genes and diseases:
gene_symbol: IL36RN
disease_id: OMIM:614204
disease_name: PSORIASIS 14, PUSTULAR
gene_symbol: IL36RN
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
gene_symbol: AP1S3
disease_id: ORPHA:247353
disease_name: Generalized pustular psoriasis
GPP
Phenotype: Stiff neck (HP:0025258)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: NEK9
disease_id: OMIM:617022
disease_name: LETHAL CONGENITAL CONTRACTURE SYNDROME 10
gene_symbol: NDUFS3
disease_id: OMIM:618230
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 8
gene_symbol: COL2A1
disease_id: OMIM:616583
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: NDE1
disease_id: ORPHA:2177
disease_name: Hydranencephaly
Phenotype: Stiff elbow (HP:0025259)
Associated genes and diseases:
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
Phenotype: Abnormal monocyte morphology (HP:0012144)
Associated genes and diseases:
gene_symbol: TCIRG1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: SRP19
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: ELANE
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
gene_symbol: GFI1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: GFI1
disease_id: OMIM:613107
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT
gene_symbol: CLPB
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: NRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: KRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: DDX41
disease_id: OMIM:616871
disease_name: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: WAS
disease_id: OMIM:300299
disease_name: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
gene_symbol: WAS
disease_id: ORPHA:86788
disease_name: X-linked severe congenital neutropenia
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
Phenotype: Reduced quantity of Von Willebrand factor (HP:0012147)
Associated genes and diseases:
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
Phenotype: Multiple lineage myelodysplasia (HP:0012148)
Associated genes and diseases:
gene_symbol: RPS14
disease_id: ORPHA:86841
disease_name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
5q- syndrome
Phenotype: Increased total lymphocyte count (HP:0100827)
Associated genes and diseases:
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: NRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: KRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: RNASEH2B
disease_id: OMIM:610181
disease_name: AICARDI-GOUTIERES SYNDROME 2
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
gene_symbol: LMNB2
disease_id: ORPHA:79087
disease_name: Acquired partial lipodystrophy
Barraquer-Simons syndrome
Progressive cephalothoracic lipodystrophy
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: EIF2AK3
disease_id: ORPHA:1667
disease_name: Wolcott-Rallison syndrome
Early-onset diabetes mellitus with multiple epiphyseal dysplasia
WRS
Phenotype: Pancreatic squamous cell carcinoma (HP:0012142)
Associated genes and diseases:
gene_symbol: BRD4
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
gene_symbol: NUTM1
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
gene_symbol: CDKN2A
disease_id: OMIM:606719
disease_name: MELANOMA-PANCREATIC CANCER SYNDROME
Phenotype: Stiff hip (HP:0025262)
Associated genes and diseases:
gene_symbol: PLA2G6
disease_id: ORPHA:199351
disease_name: Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
Phenotype: Stiff knee (HP:0025263)
Associated genes and diseases:
gene_symbol: TRAPPC2
disease_id: ORPHA:93284
disease_name: Spondyloepiphyseal dysplasia tarda
Phenotype: Stiff ankle (HP:0025264)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: ORPHA:93307
disease_name: Multiple epiphyseal dysplasia type 4
Autosomal recessive multiple epiphyseal dysplasia
EDM4
MED4
Polyepiphyseal dysplasia type 4
rMED
Phenotype: Snoring (HP:0025267)
Associated genes and diseases:
gene_symbol: AHDC1
disease_id: ORPHA:412069
disease_name: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Xia-Gibbs syndrome
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: PLCB4
disease_id: OMIM:614669
disease_name: AURICULOCONDYLAR SYNDROME 2
gene_symbol: PLCB4
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: EDN1
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: ORPHA:137888
disease_name: Auriculocondylar syndrome
Question mark ear syndrome
gene_symbol: GNAI3
disease_id: OMIM:602483
disease_name: AURICULOCONDYLAR SYNDROME 1
gene_symbol: HEPHL1
disease_id: OMIM:261990
disease_name: ABNORMAL HAIR, JOINT LAXITY, AND DEVELOPMENTAL DELAY
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: GPR101
disease_id: OMIM:300942
disease_name: CHROMOSOME Xq26.3 DUPLICATION SYNDROME
gene_symbol: GUSB
disease_id: OMIM:253220
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VII
gene_symbol: NAA80
disease_id: OMIM:620830
disease_name: OMIM:620830
Phenotype: Decreased corneal sensation (HP:0012155)
Associated genes and diseases:
gene_symbol: CHST6
disease_id: ORPHA:98969
disease_name: Macular corneal dystrophy
Corneal dystrophy Groenouw type II
Fehr corneal dystrophy
MCD
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: TGFBI
disease_id: ORPHA:98964
disease_name: Lattice corneal dystrophy type I
Biber-Haab-Dimmer dystrophy
Classic lattice corneal dystrophy
LCD1
LCDI
Lattice corneal dystrophy type 1
Phenotype: Carotid artery dissection (HP:0012158)
Associated genes and diseases:
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: SMAD2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: CBS
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: MFAP5
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: IPO8
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD4
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: AEBP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FKBP14
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: COL3A1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SKI
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PLOD1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SMAD3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: PMEPA1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EFEMP2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LTBP3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ASPH
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: FBN2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: EMILIN1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: LOX
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: SLC2A10
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFB3
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: TGFBR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: BGN
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: NPR2
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: ABL1
disease_id: OMIM:208050
disease_name: ARTERIAL TORTUOSITY SYNDROME
gene_symbol: THSD1
disease_id: OMIM:618734
disease_name: ANEURYSM, INTRACRANIAL BERRY, 12
Phenotype: Internal carotid artery dissection (HP:0012159)
Associated genes and diseases:
gene_symbol: THSD1
disease_id: OMIM:618734
disease_name: ANEURYSM, INTRACRANIAL BERRY, 12
Phenotype: Single lineage myelodysplasia (HP:0012150)
Associated genes and diseases:
gene_symbol: ERBB3
disease_id: OMIM:133180
disease_name: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: HSCB
disease_id: OMIM:619523
disease_name: ANEMIA, SIDEROBLASTIC, 5
gene_symbol: HSPA9
disease_id: OMIM:182170
disease_name: ANEMIA, SIDEROBLASTIC, 4
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: TET2
disease_id: ORPHA:98826
disease_name: Myelodysplastic neoplasm with low blasts
MDS-LB
Refractory anemia
Phenotype: Foveoschisis (HP:0012152)
Associated genes and diseases:
gene_symbol: OAT
disease_id: OMIM:258870
disease_name: GYRATE ATROPHY OF CHOROID AND RETINA
gene_symbol: MFRP
disease_id: OMIM:611040
disease_name: MICROPHTHALMIA, ISOLATED 5
Phenotype: Hypotriglyceridemia (HP:0012153)
Associated genes and diseases:
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
gene_symbol: ANGPTL3
disease_id: OMIM:605019
disease_name: HYPOBETALIPOPROTEINEMIA, FAMILIAL, 2
gene_symbol: SAR1B
disease_id: OMIM:246700
disease_name: CHYLOMICRON RETENTION DISEASE
gene_symbol: MTTP
disease_id: ORPHA:14
disease_name: Abetalipoproteinemia
Bassen-Kornzweig disease
Homozygous familial hypobetalipoproteinemia
gene_symbol: APOC3
disease_id: OMIM:614028
disease_name: APOLIPOPROTEIN C-III DEFICIENCY
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: GALNT2
disease_id: OMIM:618885
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIt
gene_symbol: PCYT1A
disease_id: ORPHA:85167
disease_name: Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
SMD-CRD
Phenotype: Cervical myelopathy (HP:0002318)
Associated genes and diseases:
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT1
disease_id: OMIM:133700
disease_name: EXOSTOSES, MULTIPLE, TYPE I
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: OMIM:133701
disease_name: EXOSTOSES, MULTIPLE, TYPE II
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated genes and diseases:
gene_symbol: RTN2
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: UBAP1
disease_id: ORPHA:100993
disease_name: Autosomal dominant spastic paraplegia type 12
SPG12
gene_symbol: CPT1C
disease_id: ORPHA:444099
disease_name: Autosomal dominant spastic paraplegia type 73
SPG73
gene_symbol: WASHC5
disease_id: OMIM:603563
disease_name: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT
gene_symbol: WASHC5
disease_id: ORPHA:100989
disease_name: Autosomal dominant spastic paraplegia type 8
SPG8
gene_symbol: NIPA1
disease_id: OMIM:600363
disease_name: SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT
gene_symbol: SPG7
disease_id: OMIM:607259
disease_name: SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
gene_symbol: KPNA3
disease_id: ORPHA:171612
disease_name: Autosomal dominant spastic paraplegia type 37
SPG37
gene_symbol: SLC33A1
disease_id: ORPHA:171863
disease_name: Autosomal dominant spastic paraplegia type 42
SPG42
gene_symbol: SPAST
disease_id: OMIM:182601
disease_name: SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT
gene_symbol: ATL1
disease_id: OMIM:182600
disease_name: SPASTIC PARAPLEGIA 3, AUTOSOMAL DOMINANT
gene_symbol: SOD1
disease_id: OMIM:105400
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: PRPH
disease_id: OMIM:105400
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: DCTN1
disease_id: OMIM:105400
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: NEFH
disease_id: OMIM:105400
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 1
gene_symbol: PLP1
disease_id: OMIM:312920
disease_name: SPASTIC PARAPLEGIA 2, X-LINKED
gene_symbol: FUS
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: SQSTM1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: VCP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TARDBP
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: TBK1
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: CHCHD10
disease_id: ORPHA:275872
disease_name: Frontotemporal dementia with motor neuron disease
FTD-ALS
FTD-MND
Frontotemporal dementia with amyotrophic lateral sclerosis
gene_symbol: SPG11
disease_id: OMIM:604360
disease_name: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE
Phenotype: Esophageal spasms (HP:0025271)
Associated genes and diseases:
gene_symbol: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
Phenotype: Ovarian dermoid cyst (HP:0025274)
Associated genes and diseases:
gene_symbol: MSH3
disease_id: ORPHA:480536
disease_name: MSH3-related attenuated familial adenomatous polyposis
MSH3-related AFAP
MSH3-related attenuated FAP
MSH3-related attenuated familial polyposis coli
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
Phenotype: Cold-induced sweating (HP:0025278)
Associated genes and diseases:
gene_symbol: CLCF1
disease_id: OMIM:610313
disease_name: CRISPONI/COLD-INDUCED SWEATING SYNDROME 2
gene_symbol: KLHL7
disease_id: OMIM:617055
disease_name: PERCHING SYNDROME
Phenotype: Skin-picking (HP:0012166)
Associated genes and diseases:
gene_symbol: HDAC4
disease_id: OMIM:600430
disease_name: CHROMOSOME 2q37 DELETION SYNDROME
gene_symbol: SNRPN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: SNRPN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: SNRPN
disease_id: ORPHA:177907
disease_name: Prader-Willi syndrome due to translocation
gene_symbol: SNRPN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: NDN
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: NDN
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: NDN
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: MAGEL2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: MAGEL2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: MAGEL2
disease_id: ORPHA:398069
disease_name: Schaaf-Yang syndrome
SYS
gene_symbol: MAGEL2
disease_id: OMIM:615547
disease_name: SCHAAF-YANG SYNDROME
gene_symbol: MAGEL2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: OCA2
disease_id: ORPHA:177904
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
gene_symbol: OCA2
disease_id: ORPHA:177901
disease_name: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
gene_symbol: OCA2
disease_id: ORPHA:98754
disease_name: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
UPD(15)mat
gene_symbol: USP7
disease_id: ORPHA:500055
disease_name: Hao-Fountain syndrome due to 16p13.2 microdeletion
Chromosome 16p13.2 deletion syndrome
Del(16)(p13.2)
Monosomy 16p13.2
gene_symbol: CHD5
disease_id: OMIM:619873
disease_name: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME
gene_symbol: SIM1
disease_id: ORPHA:398079
disease_name: SIM1-related Prader-Willi-like syndrome
SIM1-related PWLS
gene_symbol: KMT2E
disease_id: OMIM:618512
disease_name: O'DONNELL-LURIA-RODAN SYNDROME
gene_symbol: SLC6A4
disease_id: OMIM:164230
disease_name: OBSESSIVE-COMPULSIVE DISORDER
gene_symbol: HTR2A
disease_id: OMIM:164230
disease_name: OBSESSIVE-COMPULSIVE DISORDER
gene_symbol: CNTNAP2
disease_id: ORPHA:163681
disease_name: CNTNAP2-related developmental and epileptic encephalopathy
CDFE syndrome
CDFES
CNTNAP2-related DEE
Cortical dysplasia-focal epilepsy syndrome
Phenotype: Hair-pulling (HP:0012167)
Associated genes and diseases:
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: BRD4
disease_id: OMIM:620568
disease_name: CORNELIA DE LANGE SYNDROME 6
gene_symbol: SLITRK1
disease_id: OMIM:613229
disease_name: TRICHOTILLOMANIA
gene_symbol: EEF1A2
disease_id: OMIM:616393
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 38
gene_symbol: SLC1A4
disease_id: ORPHA:447997
disease_name: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ASCT1 deficiency
Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
gene_symbol: RFX7
disease_id: OMIM:620330
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 71, WITH BEHAVIORAL ABNORMALITIES