TaoMedAI/RareMedData huggingface dataset:
Phenotype: Mitochondrial respiratory chain defects (HP:0200125)
Associated genes and diseases:
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: PNPT1
disease_id: ORPHA:319514
disease_name: Combined oxidative phosphorylation defect type 13
COXPD13
gene_symbol: TRMU
disease_id: OMIM:613070
disease_name: LIVER FAILURE, INFANTILE, TRANSIENT
gene_symbol: DNAJC30
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: NDUFS2
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO1
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CO3
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-CYB
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ATP6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND5
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND6
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: MT-ND4L
disease_id: ORPHA:104
disease_name: Leber hereditary optic neuropathy
LHON
Leber optic atrophy
gene_symbol: PPM1B
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
gene_symbol: SLC3A1
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
gene_symbol: PREPL
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
gene_symbol: CAMKMT
disease_id: ORPHA:163693
disease_name: 2p21 microdeletion syndrome
2p21 deletion syndrome
Del(2)(p21)
Monosomy 2p21
Phenotype: Atrial cardiomyopathy (HP:0200127)
Associated genes and diseases:
gene_symbol: GJA5
disease_id: OMIM:108770
disease_name: ATRIAL STANDSTILL 1
gene_symbol: NPPA
disease_id: OMIM:615745
disease_name: ATRIAL STANDSTILL 2
Phenotype: Biventricular hypertrophy (HP:0200128)
Associated genes and diseases:
gene_symbol: MYRF
disease_id: OMIM:618280
disease_name: CARDIAC-UROGENITAL SYNDROME
gene_symbol: TALDO1
disease_id: ORPHA:101028
disease_name: Transaldolase deficiency
TALDO deficiency
gene_symbol: PRKAG2
disease_id: OMIM:261740
disease_name: GLYCOGEN STORAGE DISEASE OF HEART, LETHAL CONGENITAL
gene_symbol: NDUFA11
disease_id: OMIM:618236
disease_name: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14
gene_symbol: MYL2
disease_id: OMIM:619424
disease_name: MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY
gene_symbol: CACNA1D
disease_id: OMIM:615474
disease_name: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: DEPDC5
disease_id: OMIM:620504
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 111
gene_symbol: ATP6V1E1
disease_id: OMIM:617402
disease_name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIC
gene_symbol: MYH7
disease_id: OMIM:255160
disease_name: MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE
gene_symbol: ALG12
disease_id: ORPHA:79324
disease_name: ALG12-CDG
CDG syndrome type Ig
CDG-Ig
CDG1G
Carbohydrate deficient glycoprotein syndrome type Ig
Congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
Mannosyltransferase 8 deficiency
Phenotype: Lumbosacral meningocele (HP:0200133)
Associated genes and diseases:
gene_symbol: BMPER
disease_id: OMIM:608022
disease_name: DIAPHANOSPONDYLODYSOSTOSIS
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
Phenotype: Bilateral choanal atresia/stenosis (HP:0200138)
Associated genes and diseases:
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: PTH1R
disease_id: ORPHA:33067
disease_name: Metaphyseal chondrodysplasia, Jansen type
gene_symbol: TXNL4A
disease_id: OMIM:608572
disease_name: BURN-MCKEOWN SYNDROME
Phenotype: Small, conical teeth (HP:0200141)
Associated genes and diseases:
gene_symbol: ATP6V0A2
disease_id: ORPHA:2834
disease_name: Wrinkly skin syndrome
WSS
Wrinkled skin syndrome
gene_symbol: TP63
disease_id: OMIM:129400
disease_name: RAPP-HODGKIN SYNDROME
gene_symbol: ATP6V1B2
disease_id: ORPHA:79499
disease_name: Autosomal dominant deafness-onychodystrophy syndrome
Autosomal dominant hearing loss-onychodystrophy syndrome
DDOD syndrome
Phenotype: Megaloblastic erythroid hyperplasia (HP:0200143)
Associated genes and diseases:
gene_symbol: CBLIF
disease_id: ORPHA:332
disease_name: Congenital intrinsic factor deficiency
Congenital pernicious anemia
Gastric intrinsic factor deficiency
Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency
IFD
Intrinsic factor deficiency
gene_symbol: CBLIF
disease_id: OMIM:261000
disease_name: INTRINSIC FACTOR DEFICIENCY
gene_symbol: TET2
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
Phenotype: Neuronal loss in basal ganglia (HP:0200147)
Associated genes and diseases:
gene_symbol: SCO2
disease_id: OMIM:604377
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 2
gene_symbol: MAPT
disease_id: OMIM:601104
disease_name: SUPRANUCLEAR PALSY, PROGRESSIVE, 1
gene_symbol: VRK1
disease_id: OMIM:607596
disease_name: PONTOCEREBELLAR HYPOPLASIA, TYPE 1A
gene_symbol: HTT
disease_id: ORPHA:248111
disease_name: Juvenile Huntington disease
JHD
Juvenile Huntington chorea
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
Phenotype: Abnormal liver function tests during pregnancy (HP:0200148)
Associated genes and diseases:
gene_symbol: ABCB4
disease_id: OMIM:614972
disease_name: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
gene_symbol: ATP8B1
disease_id: OMIM:147480
disease_name: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
Phenotype: CSF lymphocytic pleiocytosis (HP:0200149)
Associated genes and diseases:
gene_symbol: RNASEH2B
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNASEH2B
disease_id: OMIM:610181
disease_name: AICARDI-GOUTIERES SYNDROME 2
gene_symbol: ADAR
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: RNU7-1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: LSM11
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: IFIH1
disease_id: ORPHA:51
disease_name: Aicardi-Goutières syndrome
Encephalopathy with basal ganglia calcification
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
gene_symbol: TREX1
disease_id: OMIM:225750
disease_name: AICARDI-GOUTIERES SYNDROME 1
gene_symbol: IRF3
disease_id: OMIM:616532
disease_name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7
gene_symbol: RNASEH2A
disease_id: OMIM:610333
disease_name: AICARDI-GOUTIERES SYNDROME 4
gene_symbol: SAMHD1
disease_id: OMIM:612952
disease_name: AICARDI-GOUTIERES SYNDROME 5
gene_symbol: RNASEH2C
disease_id: OMIM:610329
disease_name: AICARDI-GOUTIERES SYNDROME 3
gene_symbol: CACNA1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: PRRT2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: SCN1A
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: ATP1A2
disease_id: ORPHA:569
disease_name: Familial or sporadic hemiplegic migraine
gene_symbol: TRAF3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: UNC93B1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TICAM1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TLR3
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
gene_symbol: TBK1
disease_id: ORPHA:1930
disease_name: Herpes simplex virus encephalitis
HSE
HSV encephalitis
HSVE
Herpes simplex meningo-encephalitis
Herpes simplex neuroinvasion
Herpetic encephalitis
Phenotype: Increased serum bile acid concentration during pregnancy (HP:0200150)
Associated genes and diseases:
gene_symbol: ABCB4
disease_id: OMIM:614972
disease_name: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY 3
gene_symbol: ATP8B1
disease_id: OMIM:147480
disease_name: CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
Phenotype: Cutaneous mastocytosis (HP:0200151)
Associated genes and diseases:
gene_symbol: KIT
disease_id: ORPHA:280794
disease_name: Pseudoxanthomatous diffuse cutaneous mastocytosis
Infiltrative small vesicular DCM
Infiltrative small vesicular diffuse cutaneous mastocytosis
Pseudoxanthomatous DCM
gene_symbol: KIT
disease_id: ORPHA:280785
disease_name: Bullous diffuse cutaneous mastocytosis
Bullous DCM
gene_symbol: KIT
disease_id: OMIM:154800
disease_name: MASTOCYTOSIS, CUTANEOUS
Phenotype: Agenesis of mandibular lateral incisor (HP:0200154)
Associated genes and diseases:
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
Phenotype: Agenesis of maxillary incisor (HP:0200160)
Associated genes and diseases:
gene_symbol: BLM
disease_id: OMIM:210900
disease_name: BLOOM SYNDROME
gene_symbol: ERCC3
disease_id: OMIM:616390
disease_name: TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: BCOR
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: NAA10
disease_id: OMIM:309800
disease_name: MICROPHTHALMIA, SYNDROMIC 1
gene_symbol: FGFR1
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: MSX1
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: EDARADD
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: PAX9
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: SUMO1
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: WNT10A
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: EDA
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: IRF6
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: LRP6
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: GREM2
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: TGFA
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: WNT10B
disease_id: ORPHA:99798
disease_name: Oligodontia
Selective tooth agenesis
gene_symbol: B3GLCT
disease_id: OMIM:261540
disease_name: PETERS-PLUS SYNDROME
gene_symbol: RIPK4
disease_id: ORPHA:1401
disease_name: CHAND syndrome
Baughman syndrome
CHANDS
Curly hair-ankyloblepharon-nail dysplasia syndrome
gene_symbol: ADAMTS15
disease_id: OMIM:620545
disease_name: ARTHROGRYPOSIS, DISTAL, TYPE 12
Phenotype: Agenesis of mandibular incisor (HP:0200161)
Associated genes and diseases:
gene_symbol: EIF4A3
disease_id: ORPHA:3102
disease_name: Richieri Costa-Pereira syndrome
Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
Phenotype: Lymphoid nodular hyperplasia (HP:0032203)
Associated genes and diseases:
gene_symbol: PTEN
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
gene_symbol: HEPACAM
disease_id: ORPHA:210548
disease_name: Macrocephaly-intellectual disability-autism syndrome
Phenotype: Chronic active Epstein-Barr virus infection (HP:0032204)
Associated genes and diseases:
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: PIK3R1
disease_id: ORPHA:693681
disease_name: ORPHA:693681
Phenotype: Increased urinary type 1 collagen N-terminal telopeptide level (HP:0032208)
Associated genes and diseases:
gene_symbol: FN1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: COL2A1
disease_id: ORPHA:93315
disease_name: Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Sutcliffe type
gene_symbol: NPR2
disease_id: OMIM:615923
disease_name: EPIPHYSEAL CHONDRODYSPLASIA, MIURA TYPE
Phenotype: Abnormal circulating free T3 concentration (HP:0032209)
Associated genes and diseases:
gene_symbol: TSHR
disease_id: OMIM:609152
disease_name: HYPERTHYROIDISM, NONAUTOIMMUNE
gene_symbol: THRB
disease_id: ORPHA:566243
disease_name: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
RTHb
Resistance to thyroid hormone beta
Resistance to thyroid hormone due to a mutation in TRb
gene_symbol: THRB
disease_id: OMIM:188570
disease_name: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT
gene_symbol: SLC16A2
disease_id: ORPHA:59
disease_name: Allan-Herndon-Dudley syndrome
AHDS
MCT8 deficiency
Monocarboxylate transporter 8 deficiency
X-linked intellectual disability-hypotonia syndrome
gene_symbol: TRU-TCA1-1
disease_id: OMIM:620198
disease_name: THYROID HORMONE METABOLISM, ABNORMAL, 3
gene_symbol: SECISBP2
disease_id: ORPHA:171706
disease_name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
gene_symbol: SECISBP2
disease_id: OMIM:609698
disease_name: THYROID HORMONE METABOLISM, ABNORMAL
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: TRHR
disease_id: ORPHA:99832
disease_name: Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated genes and diseases:
gene_symbol: SECISBP2
disease_id: ORPHA:171706
disease_name: Short stature-delayed bone age due to thyroid hormone metabolism deficiency
gene_symbol: SECISBP2
disease_id: OMIM:609698
disease_name: THYROID HORMONE METABOLISM, ABNORMAL
gene_symbol: NKX2-5
disease_id: OMIM:225250
disease_name: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 5
gene_symbol: POU1F1
disease_id: OMIM:613038
disease_name: PITUITARY HORMONE DEFICIENCY, COMBINED, 1
gene_symbol: MADD
disease_id: OMIM:619004
disease_name: DEEAH SYNDROME
gene_symbol: TRHR
disease_id: ORPHA:99832
disease_name: Resistance to thyrotropin-releasing hormone syndrome
Central hypothyroidism due to TRH receptor deficiency
TRH resistance syndrome
Phenotype: Disseminated cutaneous warts (HP:0032215)
Associated genes and diseases:
gene_symbol: RHOH
disease_id: OMIM:618307
disease_name: EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 4
gene_symbol: CD28
disease_id: OMIM:620901
disease_name: OMIM:620901
gene_symbol: CD4
disease_id: OMIM:619238
disease_name: IMMUNODEFICIENCY 79
Phenotype: Lymphocytic infiltration of the colorectal mucosa (HP:0032216)
Associated genes and diseases:
gene_symbol: CTLA4
disease_id: OMIM:616100
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V
gene_symbol: CTLA4
disease_id: ORPHA:436159
disease_name: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ALPS due to CTLA4 haploinsuffiency
CHAI
CTLA-4 haploinsufficiency with autoimmune infiltration disease
Phenotype: Interface hepatitis (HP:0032220)
Associated genes and diseases:
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
Phenotype: Serrated intestinal polyps (HP:0032222)
Associated genes and diseases:
gene_symbol: RNF43
disease_id: OMIM:617108
disease_name: SESSILE SERRATED POLYPOSIS CANCER SYNDROME
Phenotype: Perifollicular fibroma (HP:0032225)
Associated genes and diseases:
gene_symbol: PRDM10
disease_id: OMIM:620459
disease_name: BIRT-HOGG-DUBE SYNDROME 2
Phenotype: Abnormal sebaceous gland morphology (HP:0032226)
Associated genes and diseases:
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
gene_symbol: CDH3
disease_id: OMIM:601553
disease_name: HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY
Phenotype: Sebaceous hyperplasia (HP:0032227)
Associated genes and diseases:
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
Phenotype: Trichodiscoma (HP:0032228)
Associated genes and diseases:
gene_symbol: FLCN
disease_id: OMIM:135150
disease_name: BIRT-HOGG-DUBE SYNDROME
Phenotype: Perinuclear antineutrophil antibody positivity (HP:0032229)
Associated genes and diseases:
gene_symbol: DNASE1L3
disease_id: OMIM:614420
disease_name: SYSTEMIC LUPUS ERYTHEMATOSUS 16
gene_symbol: SERPINA1
disease_id: ORPHA:60
disease_name: Alpha-1-antitrypsin deficiency
Alpha-1-proteinase inhibitor deficiency
Alpha1-antitrypsin deficiency
gene_symbol: ARPC1B
disease_id: OMIM:617718
disease_name: IMMUNODEFICIENCY 71 WITH INFLAMMATORY DISEASE AND CONGENITAL THROMBOCYTOPENIA
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: CTNNB1
disease_id: ORPHA:91414
disease_name: Pilomatrixoma
Epithelioma calcificans of Malherbe
Pilomatricoma
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated genes and diseases:
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: RFXANK
disease_id: OMIM:620815
disease_name: MHC CLASS II DEFICIENCY 2
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: TAP2
disease_id: OMIM:620813
disease_name: MHC CLASS I DEFICIENCY 2
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
Phenotype: Hypochromia (HP:0032231)
Associated genes and diseases:
gene_symbol: SLC11A2
disease_id: OMIM:206100
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1
gene_symbol: STEAP3
disease_id: OMIM:615234
disease_name: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2
gene_symbol: UMPS
disease_id: OMIM:258900
disease_name: OROTIC ACIDURIA
gene_symbol: SLC25A38
disease_id: OMIM:205950
disease_name: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY
gene_symbol: HBB
disease_id: ORPHA:2133
disease_name: Hemoglobin E disease
gene_symbol: TRNT1
disease_id: OMIM:616959
disease_name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS
gene_symbol: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: GLRX5
disease_id: OMIM:616860
disease_name: ANEMIA, SIDEROBLASTIC, 3, PYRIDOXINE-REFRACTORY
gene_symbol: RHAG
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHCE
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
gene_symbol: RHD
disease_id: ORPHA:71275
disease_name: Rh deficiency syndrome
Rh-null syndrome
Phenotype: Increased circulating creatine kinase MB isoform (HP:0032232)
Associated genes and diseases:
gene_symbol: GAA
disease_id: OMIM:232300
disease_name: GLYCOGEN STORAGE DISEASE II
gene_symbol: DMD
disease_id: OMIM:302045
disease_name: CARDIOMYOPATHY, DILATED, 3B
gene_symbol: FHL1
disease_id: OMIM:300280
disease_name: URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME
gene_symbol: DSG2
disease_id: OMIM:610193
disease_name: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 10
gene_symbol: SLC30A9
disease_id: OMIM:617595
disease_name: BIRK-LANDAU-PEREZ SYNDROME
Phenotype: Increased circulating creatine kinase MM isoform (HP:0032234)
Associated genes and diseases:
gene_symbol: AHCY
disease_id: OMIM:613752
disease_name: HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY