TaoMedAI/RareMedData huggingface dataset:
Phenotype: Rib osteolysis (HP:0034047)
Associated genes and diseases:
gene_symbol: BANF1
disease_id: OMIM:614008
disease_name: NESTOR-GUILLERMO PROGERIA SYNDROME
Phenotype: Decreased circulating chenodeoxycholic acid concentration (HP:0034048)
Associated genes and diseases:
gene_symbol: SLC51B
disease_id: OMIM:619481
disease_name: BILE ACID MALABSORPTION, PRIMARY, 2
Phenotype: Elevated urinary prostaglandin E2 level (HP:0034049)
Associated genes and diseases:
gene_symbol: SLCO2A1
disease_id: OMIM:167100
disease_name: HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL DOMINANT
Phenotype: Hypoplastic anterior limbs of the internal capsule (HP:0034051)
Associated genes and diseases:
gene_symbol: TUBA1A
disease_id: ORPHA:171680
disease_name: Lissencephaly due to TUBA1A mutation
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
Phenotype: Decreased acid ceramidase activity (HP:0034053)
Associated genes and diseases:
gene_symbol: ASAH1
disease_id: OMIM:228000
disease_name: FARBER LIPOGRANULOMATOSIS
Phenotype: Probst bundles (HP:0034054)
Associated genes and diseases:
gene_symbol: NFIB
disease_id: OMIM:618286
disease_name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Phenotype: Anti-side-chain cleavage enzyme antibody positivity (HP:0034055)
Associated genes and diseases:
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Increased fecal calprotectin level (HP:0034056)
Associated genes and diseases:
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
Phenotype: Ileal atresia (HP:0011102)
Associated genes and diseases:
gene_symbol: PPP1R12A
disease_id: OMIM:618820
disease_name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: MYH11
disease_id: OMIM:619351
disease_name: MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2
gene_symbol: GMPPB
disease_id: OMIM:615351
disease_name: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 14
gene_symbol: DIS3L2
disease_id: OMIM:267000
disease_name: PERLMAN SYNDROME
Phenotype: Anti-insulin antibody positivity (HP:0034062)
Associated genes and diseases:
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
Phenotype: Anti-islet antigen-2 antibody positivity (HP:0034063)
Associated genes and diseases:
gene_symbol: DNAJC3
disease_id: OMIM:616192
disease_name: ATAXIA, COMBINED CEREBELLAR AND PERIPHERAL, WITH HEARING LOSS AND DIABETES MELLITUS
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: FCGR2C
disease_id: ORPHA:3002
disease_name: Immune thrombocytopenia
ITP
Immune thrombocytopenic purpura
gene_symbol: DUT
disease_id: OMIM:620044
disease_name: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME
Phenotype: Tonofilament clumping (HP:0034067)
Associated genes and diseases:
gene_symbol: KRT5
disease_id: OMIM:619555
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX 2A, GENERALIZED SEVERE
gene_symbol: KRT5
disease_id: OMIM:131760
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
gene_symbol: KRT14
disease_id: OMIM:131760
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE
Phenotype: Defective production of NFKB1-dependent cytokines (HP:0011114)
Associated genes and diseases:
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
Phenotype: Abnormality of cytokine secretion (HP:0011113)
Associated genes and diseases:
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
Phenotype: Abnormality of tumor necrosis factor secretion (HP:0011118)
Associated genes and diseases:
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated genes and diseases:
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: SCNN1G
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1A
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: SCNN1B
disease_id: ORPHA:171876
disease_name: Generalized pseudohypoaldosteronism type 1
Autosomal recessive PHA1
Autosomal recessive pseudohypoaldosteronism type 1
Generalized PHA1
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: MPEG1
disease_id: OMIM:619223
disease_name: IMMUNODEFICIENCY 77
gene_symbol: RIPK1
disease_id: OMIM:618852
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: SEC61A1
disease_id: OMIM:620670
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 15
gene_symbol: C3
disease_id: OMIM:613779
disease_name: COMPLEMENT COMPONENT 3 DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: IGKC
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
Phenotype: Anti-21-hydroxylase antibody positivity (HP:0034071)
Associated genes and diseases:
gene_symbol: AIRE
disease_id: ORPHA:3453
disease_name: Autoimmune polyendocrinopathy type 1
APECED syndrome
APS type 1
APS1
Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
Autoimmune polyendocrine syndrome type 1
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
Autoimmune polyglandular syndrome type 1
HAM syndrome
Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
MEDAC syndrome
Multiple endocrine deficiency-Addison disease-candidiasis syndrome
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Decreased circulating apolipoprotein B concentration (HP:0034075)
Associated genes and diseases:
gene_symbol: CCT5
disease_id: OMIM:256840
disease_name: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE
Phenotype: Perioral eczema (HP:0011127)
Associated genes and diseases:
gene_symbol: NCF4
disease_id: OMIM:613960
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3
gene_symbol: HLCS
disease_id: ORPHA:79242
disease_name: Holocarboxylase synthetase deficiency
Early-onset multiple carboxylase deficiency
Neonatal multiple carboxylase deficiency
Phenotype: Nephroptosis (HP:0011126)
Associated genes and diseases:
gene_symbol: MCM5
disease_id: OMIM:617564
disease_name: MEIER-GORLIN SYNDROME 8
Phenotype: Abnormality of dermal melanosomes (HP:0011125)
Associated genes and diseases:
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: MYO5A
disease_id: OMIM:214450
disease_name: GRISCELLI SYNDROME, TYPE 1
gene_symbol: AP3D1
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: ORPHA:54
disease_name: X-linked recessive ocular albinism
OA1
Ocular albinism type 1
Ocular albinism, Nettleship-Falls type
XLOA
gene_symbol: GPR143
disease_id: OMIM:300500
disease_name: ALBINISM, OCULAR, TYPE I
gene_symbol: LYST
disease_id: OMIM:214500
disease_name: CHEDIAK-HIGASHI SYNDROME
gene_symbol: CACNA1F
disease_id: OMIM:300600
disease_name: ALAND ISLAND EYE DISEASE
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
Phenotype: Bilateral fetal pyelectasis (HP:0011129)
Associated genes and diseases:
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Phenotype: Concave nasal ridge (HP:0011120)
Associated genes and diseases:
gene_symbol: IGF1
disease_id: ORPHA:73272
disease_name: Growth delay due to insulin-like growth factor type 1 deficiency
Growth delay-deafness-intellectual disability syndrome
Growth delay-hearing loss-intellectual disability syndrome
IGF-1 deficiency
Primary insulin-like growth factor deficiency
gene_symbol: DDR2
disease_id: OMIM:271665
disease_name: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: DMXL2
disease_id: OMIM:618663
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 81
gene_symbol: STAT5B
disease_id: OMIM:245590
disease_name: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 1, AUTOSOMAL RECESSIVE
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: ANTXR1
disease_id: OMIM:230740
disease_name: GAPO SYNDROME
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: SHANK3
disease_id: OMIM:606232
disease_name: PHELAN-MCDERMID SYNDROME
gene_symbol: HSPG2
disease_id: OMIM:255800
disease_name: SCHWARTZ-JAMPEL SYNDROME, TYPE 1
gene_symbol: EBP
disease_id: OMIM:302960
disease_name: CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT
gene_symbol: RECQL4
disease_id: OMIM:218600
disease_name: BALLER-GEROLD SYNDROME
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: EXOSC2
disease_id: OMIM:617763
disease_name: SHORT STATURE, HEARING LOSS, RETINITIS PIGMENTOSA, AND DISTINCTIVE FACIES
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: SLC37A4
disease_id: OMIM:619525
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: CANT1
disease_id: OMIM:251450
disease_name: DESBUQUOIS DYSPLASIA 1
gene_symbol: FOXC1
disease_id: OMIM:602482
disease_name: AXENFELD-RIEGER SYNDROME, TYPE 3
gene_symbol: SOST
disease_id: OMIM:122860
disease_name: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
Phenotype: Aplasia of the sweat glands (HP:0011136)
Associated genes and diseases:
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: IKBKG
disease_id: OMIM:300291
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
Phenotype: Aplasia/Hypoplasia of the sweat glands (HP:0011135)
Associated genes and diseases:
gene_symbol: KDF1
disease_id: OMIM:617337
disease_name: ECTODERMAL DYSPLASIA 12, HYPOHIDROTIC/HAIR/TOOTH/NAIL TYPE
gene_symbol: TBX3
disease_id: OMIM:181450
disease_name: ULNAR-MAMMARY SYNDROME
gene_symbol: LMNA
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: ZMPSTE24
disease_id: ORPHA:1662
disease_name: Restrictive dermopathy
Lethal hyperkeratosis-contracture syndrome
Lethal restrictive dermopathy
Lethal tight skin-contracture syndrome
gene_symbol: EDA
disease_id: OMIM:305100
disease_name: ECTODERMAL DYSPLASIA 1, HYPOHIDROTIC, X-LINKED
gene_symbol: NFKBIA
disease_id: OMIM:612132
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 2
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: IKBKG
disease_id: OMIM:300291
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
Phenotype: Abnormal renal calyx morphology (HP:0011130)
Associated genes and diseases:
gene_symbol: WAC
disease_id: ORPHA:466950
disease_name: Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Desanto-Shinawi syndrome due to WAC point mutation
gene_symbol: KMT2A
disease_id: ORPHA:319182
disease_name: Wiedemann-Steiner syndrome
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: EYA1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX5
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
gene_symbol: SIX1
disease_id: ORPHA:107
disease_name: BOR syndrome
Branchiootorenal spectrum disorder
Branchiootorenal syndrome
Melnick-Fraser syndrome
Phenotype: Low-grade fever (HP:0011134)
Associated genes and diseases:
gene_symbol: STAT4
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RB
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: ANKRD55
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN22
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: CD247
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: IL2RA
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: PTPN2
disease_id: ORPHA:85408
disease_name: Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Juvenile polyarthritis without rheumatoid factor
Juvenile rheumatoid factor-negative polyarthritis
Rheumatoid factor-negative polyarticular JIA
gene_symbol: CALR
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: MPL
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: JAK2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: TET2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
Phenotype: Increased sensitivity to ionizing radiation (HP:0011133)
Associated genes and diseases:
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: RNF168
disease_id: OMIM:611943
disease_name: RIDDLE SYNDROME
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: MRE11
disease_id: OMIM:604391
disease_name: ATAXIA-TELANGIECTASIA-LIKE DISORDER 1
Phenotype: Chronic furunculosis (HP:0011132)
Associated genes and diseases:
gene_symbol: OTULIN
disease_id: OMIM:619986
disease_name: IMMUNODEFICIENCY 107, SUSCEPTIBILITY TO INVASIVE STAPHYLOCOCCUS AUREUS INFECTION
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
gene_symbol: PSENEN
disease_id: OMIM:613736
disease_name: ACNE INVERSA, FAMILIAL, 2, WITH OR WITHOUT DOWLING-DEGOS DISEASE
gene_symbol: PSEN1
disease_id: OMIM:613737
disease_name: ACNE INVERSA, FAMILIAL, 3
gene_symbol: CTSC
disease_id: ORPHA:678
disease_name: Papillon-Lefèvre syndrome
Keratosis palmoplantar-periodontopathy syndrome
PLS
Phenotype: Perianal dermatitis (HP:0011131)
Associated genes and diseases:
gene_symbol: ADAM17
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: EGFR
disease_id: ORPHA:294023
disease_name: Neonatal inflammatory skin and bowel disease
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
Phenotype: Chronic sensorineural polyneuropathy (HP:0001301)
Associated genes and diseases:
gene_symbol: ARSI
disease_id: ORPHA:401815
disease_name: Autosomal recessive spastic paraplegia type 66
SPG66
Phenotype: Torsion dystonia (HP:0001304)
Associated genes and diseases:
gene_symbol: ADAR
disease_id: ORPHA:41
disease_name: Dyschromatosis symmetrica hereditaria
Acropigmentation of Dohi
gene_symbol: HPCA
disease_id: OMIM:224500
disease_name: DYSTONIA 2, TORSION, AUTOSOMAL RECESSIVE
gene_symbol: HPCA
disease_id: ORPHA:99657
disease_name: Primary dystonia, DYT2 type
DYT2
gene_symbol: TAF1
disease_id: OMIM:314250
disease_name: DYSTONIA 3, TORSION, X-LINKED
gene_symbol: TAF1
disease_id: ORPHA:53351
disease_name: X-linked dystonia-parkinsonism
DYT3
Lubag
Lubag syndrome
XDP
gene_symbol: THAP1
disease_id: OMIM:602629
disease_name: DYSTONIA 6, TORSION
gene_symbol: TUBB4A
disease_id: OMIM:128101
disease_name: DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT
gene_symbol: SLC2A1
disease_id: ORPHA:98811
disease_name: Paroxysmal exertion-induced dyskinesia
DYT18
Dystonia 18
PED
gene_symbol: PRRT2
disease_id: ORPHA:98811
disease_name: Paroxysmal exertion-induced dyskinesia
DYT18
Dystonia 18
PED
gene_symbol: TOR1A
disease_id: OMIM:128100
disease_name: DYSTONIA 1, TORSION, AUTOSOMAL DOMINANT
Phenotype: Salivary basal cell adenoma (HP:6000007)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Cerebriform connective tissue nevus (HP:6000009)
Associated genes and diseases:
gene_symbol: AKT1
disease_id: OMIM:176920
disease_name: PROTEUS SYNDROME
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
Phenotype: Absence seizure with eyelid myoclonia (HP:0011149)
Associated genes and diseases:
gene_symbol: AP2M1
disease_id: OMIM:618587
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES
gene_symbol: DHFR
disease_id: OMIM:613839
disease_name: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
Phenotype: Giant somatosensory evoked potentials (HP:0001312)
Associated genes and diseases:
gene_symbol: SAMD12
disease_id: OMIM:601068
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1
gene_symbol: STARD7
disease_id: OMIM:607876
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2
gene_symbol: SEMA6B
disease_id: OMIM:618876
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 11
gene_symbol: NHLRC1
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: EPM2A
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: MARCHF6
disease_id: OMIM:613608
disease_name: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 3