TaoMedAI/RareMedData huggingface dataset:
Phenotype: Sleep onset insomnia (HP:0031354)
Associated genes and diseases:
gene_symbol: PRR12
disease_id: OMIM:619539
disease_name: NEUROOCULAR SYNDROME 1
gene_symbol: KMT5B
disease_id: OMIM:617788
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 51
gene_symbol: PI4K2A
disease_id: OMIM:620732
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES
gene_symbol: GNS
disease_id: OMIM:252940
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IIID
gene_symbol: CHD8
disease_id: OMIM:615032
disease_name: AUTISM, SUSCEPTIBILITY TO, 18
gene_symbol: CRY1
disease_id: OMIM:614163
disease_name: DELAYED SLEEP PHASE DISORDER, SUSCEPTIBILITY TO
gene_symbol: FBXO11
disease_id: OMIM:618089
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES
Phenotype: Maintenance insomnia (HP:0031355)
Associated genes and diseases:
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
Phenotype: Vegetative state (HP:0031358)
Associated genes and diseases:
gene_symbol: ARSA
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: ARSA
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: ARSA
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: PSAP
disease_id: ORPHA:309263
disease_name: Metachromatic leukodystrophy, juvenile form
Arylsulfatase A deficiency, juvenile form
MLD, juvenile form
gene_symbol: PSAP
disease_id: ORPHA:309256
disease_name: Metachromatic leukodystrophy, late infantile form
Arylsulfatase A deficiency, late infantile form
MLD, late infantile form
gene_symbol: PSAP
disease_id: OMIM:611722
disease_name: KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY
gene_symbol: LNPK
disease_id: OMIM:618090
disease_name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM
gene_symbol: ISCA2
disease_id: OMIM:616370
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 4
gene_symbol: IFT56
disease_id: OMIM:619534
disease_name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: AARS1
disease_id: OMIM:619661
disease_name: LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 2
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: SHQ1
disease_id: OMIM:619922
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES
gene_symbol: POLG
disease_id: OMIM:203700
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4A (ALPERS TYPE)
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
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
Phenotype: Reduced muscle enolase activity (HP:0034633)
Associated genes and diseases:
gene_symbol: ENO3
disease_id: OMIM:612932
disease_name: GLYCOGEN STORAGE DISEASE XIII
Phenotype: Muscle fiber granulofilamentous inclusion bodies (HP:0034635)
Associated genes and diseases:
gene_symbol: UNC45B
disease_id: OMIM:619178
disease_name: MYOFIBRILLAR MYOPATHY 11
Phenotype: Palate neoplasm (HP:0031366)
Associated genes and diseases:
gene_symbol: PRKAR1A
disease_id: OMIM:160980
disease_name: CARNEY COMPLEX, TYPE 1
Phenotype: Metaphyseal striations (HP:0031367)
Associated genes and diseases:
gene_symbol: AMER1
disease_id: OMIM:300373
disease_name: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS
gene_symbol: PORCN
disease_id: OMIM:305600
disease_name: FOCAL DERMAL HYPOPLASIA
gene_symbol: WDR26
disease_id: ORPHA:513456
disease_name: Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Skraban-Deardorff syndrome
gene_symbol: RAB3GAP2
disease_id: OMIM:212720
disease_name: MARTSOLF SYNDROME
gene_symbol: ADA
disease_id: OMIM:102700
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY
gene_symbol: RECQL4
disease_id: ORPHA:221016
disease_name: Rothmund-Thomson syndrome type 2
Poikiloderma of Rothmund-Thomson type 2
RTS2
gene_symbol: KIF22
disease_id: ORPHA:93360
disease_name: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
SEMD-MD
SEMDJL2
Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
Spondyloepimetaphyseal dysplasia with joint laxity type 2
Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
gene_symbol: NANS
disease_id: OMIM:610442
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIEVE TYPE
gene_symbol: POLE
disease_id: OMIM:615139
disease_name: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
gene_symbol: PISD
disease_id: OMIM:618889
disease_name: LIBERFARB SYNDROME
gene_symbol: MTAP
disease_id: OMIM:112250
disease_name: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA
gene_symbol: TONSL
disease_id: ORPHA:93357
disease_name: SPONASTRIME dysplasia
Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
Spondyloepimetaphyseal dysplasia, Sponastrime type
gene_symbol: TONSL
disease_id: OMIM:271510
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
gene_symbol: RMRP
disease_id: OMIM:250460
disease_name: METAPHYSEAL DYSPLASIA WITHOUT HYPOTRICHOSIS
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
Phenotype: Intestinal perforation (HP:0031368)
Associated genes and diseases:
gene_symbol: C1R
disease_id: OMIM:130080
disease_name: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 1
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: B2M
disease_id: ORPHA:314652
disease_name: Variant ABeta2M amyloidosis
Autosomal dominant beta2-microglobulinic amyloidosis
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
gene_symbol: ABCD1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: RET
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: GDNF
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SMO
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ECE1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SREBF1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDN3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3D
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ATP7A
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDNRB
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3C
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB2
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: NRTN
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
Phenotype: Colon perforation (HP:0031369)
Associated genes and diseases:
gene_symbol: GATA6
disease_id: OMIM:600001
disease_name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
gene_symbol: ABCD1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: RET
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: GDNF
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SMO
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ECE1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SREBF1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDN3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3D
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ATP7A
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDNRB
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SEMA3C
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB2
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: NRTN
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
Phenotype: Elevated urine fumaric acid level (HP:0034648)
Associated genes and diseases:
gene_symbol: FH
disease_id: ORPHA:24
disease_name: Fumaric aciduria
Fumarase deficiency
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: PCK1
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
gene_symbol: PCK2
disease_id: ORPHA:2880
disease_name: Phosphoenolpyruvate carboxykinase deficiency
PEPCK deficiency
Phenotype: Cold paresis (HP:0031372)
Associated genes and diseases:
gene_symbol: SCN4A
disease_id: ORPHA:684
disease_name: Paramyotonia congenita of Von Eulenburg
Paramyotonia congenita
Phenotype: Ankle weakness (HP:0031374)
Associated genes and diseases:
gene_symbol: MPV17
disease_id: OMIM:256810
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE)
gene_symbol: TTN
disease_id: ORPHA:609
disease_name: Tibial muscular dystrophy
Distal myopathy, Udd type
Distal titinopathy
Finnish tibial muscular dystrophy
TMD
Udd myopathy
gene_symbol: PMP22
disease_id: OMIM:118300
disease_name: CHARCOT-MARIE-TOOTH DISEASE AND DEAFNESS
gene_symbol: LDB3
disease_id: ORPHA:98912
disease_name: Late-onset distal myopathy, Markesbery-Griggs type
ZASP-related myofibrillar myopathy
gene_symbol: SCN4A
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNA1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: LRP4
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: COL13A1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNB1
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRND
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: CHRNE
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: MUSK
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: RAPSN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AGRN
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: AK9
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: DOK7
disease_id: ORPHA:98913
disease_name: Postsynaptic congenital myasthenic syndromes
gene_symbol: MATR3
disease_id: ORPHA:600
disease_name: Vocal cord and pharyngeal distal myopathy
Distal myopathy with vocal cord weakness
MATR3-related distal myopathy
VCPDM
gene_symbol: BSCL2
disease_id: ORPHA:100998
disease_name: Autosomal dominant spastic paraplegia type 17
SPG17
Silver syndrome
Spastic paraplegia-amyotrophy of hands and feet
Phenotype: Automatic atrial tachycardia (HP:0011700)
Associated genes and diseases:
gene_symbol: CITED2
disease_id: ORPHA:99105
disease_name: Atrial septal defect, sinus venosus type
ASD, sinus venosus type
Phenotype: Multifocal atrial tachycardia (HP:0011701)
Associated genes and diseases:
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
Phenotype: Second degree atrioventricular block (HP:0011706)
Associated genes and diseases:
gene_symbol: LARS2
disease_id: OMIM:617021
disease_name: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: CACNA1D
disease_id: ORPHA:369929
disease_name: Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
gene_symbol: CACNA1D
disease_id: OMIM:615474
disease_name: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
gene_symbol: LMNA
disease_id: OMIM:115200
disease_name: CARDIOMYOPATHY, DILATED, 1A
gene_symbol: CALM3
disease_id: OMIM:618782
disease_name: LONG QT SYNDROME 16
gene_symbol: POPDC1
disease_id: OMIM:616812
disease_name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 25
gene_symbol: VEZF1
disease_id: OMIM:620247
disease_name: CARDIOMYOPATHY, DILATED, 1OO
gene_symbol: KCNJ18
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: GABRA3
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: CACNA1S
disease_id: ORPHA:79102
disease_name: Thyrotoxic periodic paralysis
Thyrotoxic hypokalemic periodic paralysis
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: CALM2
disease_id: OMIM:616249
disease_name: LONG QT SYNDROME 15
gene_symbol: CALM1
disease_id: OMIM:616247
disease_name: LONG QT SYNDROME 14
Phenotype: Mobitz I atrioventricular block (HP:0011707)
Associated genes and diseases:
gene_symbol: SCN5A
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
gene_symbol: NPPA
disease_id: ORPHA:1344
disease_name: Atrial standstill
Atrial cardiomyopathy with heart block
Phenotype: Atrioventricular dissociation (HP:0011709)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: Monocarboxylic aciduria (HP:0034653)
Associated genes and diseases:
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: ECHS1
disease_id: OMIM:616277
disease_name: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
gene_symbol: ACADM
disease_id: OMIM:201450
disease_name: ACYL-CoA DEHYDROGENASE, MEDIUM-CHAIN, DEFICIENCY OF
gene_symbol: GRHPR
disease_id: OMIM:260000
disease_name: HYPEROXALURIA, PRIMARY, TYPE II
Phenotype: Elevated urine 3-hydroxyglutaric level (HP:0034656)
Associated genes and diseases:
gene_symbol: GCDH
disease_id: OMIM:231670
disease_name: GLUTARIC ACIDEMIA I
Phenotype: Elevated urine malonic acid level (HP:0034657)
Associated genes and diseases:
gene_symbol: MLYCD
disease_id: ORPHA:943
disease_name: Malonic aciduria
Deficiency of malonyl-CoA decarboxylase
MLYCD deficiency
Malonic acidemia
Malonyl-CoA decarboxylase deficiency
Phenotype: Increased micromegakaryocyte count (HP:0031386)
Associated genes and diseases:
gene_symbol: JAK2
disease_id: OMIM:614521
disease_name: THROMBOCYTHEMIA 3
Phenotype: Megakaryocyte nucleus hyperlobulation (HP:0031388)
Associated genes and diseases:
gene_symbol: SH2B3
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: CALR
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TP53
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: MPL
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: JAK2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TET2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
Phenotype: Abnormal MHC II cell surface expression (HP:0031389)
Associated genes and diseases:
gene_symbol: RFXAP
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: CIITA
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
gene_symbol: RFX5
disease_id: OMIM:620818
disease_name: MHC CLASS II DEFICIENCY 5
gene_symbol: RFX5
disease_id: OMIM:620816
disease_name: MHC CLASS II DEFICIENCY 3
gene_symbol: RFXANK
disease_id: ORPHA:572
disease_name: Immunodeficiency by defective expression of MHC class II
Bare lymphocyte syndrome type 2
MHC class II deficiency
Phenotype: Abnormal B cell proliferation (HP:0031380)
Associated genes and diseases:
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated genes and diseases:
gene_symbol: MALT1
disease_id: OMIM:615468
disease_name: IMMUNODEFICIENCY 12
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: JAK3
disease_id: OMIM:600802
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-NEGATIVE
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: MCM10
disease_id: OMIM:619313
disease_name: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY
gene_symbol: PIK3CD
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
Phenotype: Abnormal lymphocyte surface marker expression (HP:0031383)
Associated genes and diseases:
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
Phenotype: Megakaryocyte nucleus hypolobulation (HP:0031385)
Associated genes and diseases:
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: RPS14
disease_id: OMIM:153550
disease_name: CHROMOSOME 5q DELETION SYNDROME
gene_symbol: RPS14
disease_id: ORPHA:86841
disease_name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
5q- syndrome
Phenotype: Elevated urine 3-hydroxypropionic acid level (HP:0034661)
Associated genes and diseases:
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
Phenotype: Elevated urine 2-methylcitric acid level (HP:0034662)
Associated genes and diseases:
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
Phenotype: Left anterior fascicular block (HP:0011711)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: OMIM:181350
disease_name: EMERY-DREIFUSS MUSCULAR DYSTROPHY 2, AUTOSOMAL DOMINANT
gene_symbol: TNNI3K
disease_id: OMIM:616117
disease_name: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: TNNC1
disease_id: OMIM:613243
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 13
gene_symbol: TRPM4
disease_id: OMIM:604559
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB
gene_symbol: SCN5A
disease_id: OMIM:113900
disease_name: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IA
gene_symbol: FLNC
disease_id: OMIM:617047
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26
gene_symbol: ACTC1
disease_id: OMIM:612098
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11