TaoMedAI/RareMedData huggingface dataset:
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated genes and diseases:
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
Phenotype: Crazy paving pattern (HP:0025391)
Associated genes and diseases:
gene_symbol: CSF2RB
disease_id: ORPHA:264675
disease_name: Hereditary pulmonary alveolar proteinosis
Congenital PAP
Congenital pulmonary alveolar proteinosis
gene_symbol: CSF2RA
disease_id: ORPHA:264675
disease_name: Hereditary pulmonary alveolar proteinosis
Congenital PAP
Congenital pulmonary alveolar proteinosis
gene_symbol: HLA-DRB1
disease_id: ORPHA:747
disease_name: Autoimmune pulmonary alveolar proteinosis
Autoimmune PAP
aPAP
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
Phenotype: 4-5 finger cutaneous syndactyly (HP:0010705)
Associated genes and diseases:
gene_symbol: GJA1
disease_id: OMIM:186100
disease_name: SYNDACTYLY, TYPE III
gene_symbol: GJA1
disease_id: OMIM:164200
disease_name: OCULODENTODIGITAL DYSPLASIA
gene_symbol: GJA1
disease_id: OMIM:257850
disease_name: OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE
gene_symbol: DSP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: JUP
disease_id: ORPHA:158687
disease_name: Lethal acantholytic erosive disorder
gene_symbol: RTTN
disease_id: ORPHA:468631
disease_name: Microcephalic cortical malformations-short stature due to RTTN deficiency
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
Phenotype: 1-2 finger cutaneous syndactyly (HP:0010704)
Associated genes and diseases:
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
Phenotype: 2-4 finger cutaneous syndactyly (HP:0010709)
Associated genes and diseases:
gene_symbol: NECTIN1
disease_id: OMIM:225060
disease_name: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME
gene_symbol: NECTIN4
disease_id: OMIM:613573
disease_name: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
gene_symbol: CDH3
disease_id: OMIM:225280
disease_name: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME
gene_symbol: TWIST1
disease_id: OMIM:617746
disease_name: SWEENEY-COX SYNDROME
gene_symbol: CDC45
disease_id: OMIM:617063
disease_name: MEIER-GORLIN SYNDROME 7
Phenotype: 1-5 finger cutaneous syndactyly (HP:0010708)
Associated genes and diseases:
gene_symbol: LMBR1
disease_id: ORPHA:93405
disease_name: Syndactyly type 4
Polysyndactyly, Haas type
gene_symbol: LMBR1
disease_id: OMIM:186200
disease_name: SYNDACTYLY, TYPE IV
gene_symbol: SHH
disease_id: ORPHA:93405
disease_name: Syndactyly type 4
Polysyndactyly, Haas type
Phenotype: 1-4 finger cutaneous syndactyly (HP:0010707)
Associated genes and diseases:
gene_symbol: CDH3
disease_id: OMIM:225280
disease_name: ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME
Phenotype: Decreased proportion of marginal zone B cells (HP:0030384)
Associated genes and diseases:
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
Phenotype: Abnormal proportion of marginal zone B cells (HP:0030383)
Associated genes and diseases:
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
Phenotype: Increased transitional B cell proportion (HP:0030381)
Associated genes and diseases:
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62
Phenotype: Abnormal circulating thromboxane concentration (HP:0030389)
Associated genes and diseases:
gene_symbol: PLA2G4A
disease_id: OMIM:618372
disease_name: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated genes and diseases:
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
Phenotype: Abnormal class-switched memory B cell proportion (HP:0030386)
Associated genes and diseases:
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
Phenotype: Hand paresthesia (HP:0033660)
Associated genes and diseases:
gene_symbol: SPTLC2
disease_id: OMIM:613640
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IC
gene_symbol: PMP22
disease_id: OMIM:162500
disease_name: NEUROPATHY, HEREDITARY, WITH LIABILITY TO PRESSURE PALSIES
gene_symbol: COMP
disease_id: OMIM:619161
disease_name: CARPAL TUNNEL SYNDROME 2
Phenotype: Air bronchogram (HP:0033662)
Associated genes and diseases:
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
Phenotype: Diminished health-related quality of life (HP:0033665)
Associated genes and diseases:
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
Phenotype: Diminished physical functioning (HP:0033666)
Associated genes and diseases:
gene_symbol: HGD
disease_id: OMIM:203500
disease_name: ALKAPTONURIA
Phenotype: Abnormal amygdala morphology (HP:0033668)
Associated genes and diseases:
gene_symbol: CLCN3
disease_id: OMIM:619517
disease_name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES
Phenotype: 3-5 toe syndactyly (HP:0010716)
Associated genes and diseases:
gene_symbol: CCNQ
disease_id: OMIM:300707
disease_name: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS
Phenotype: 2-5 toe syndactyly (HP:0010715)
Associated genes and diseases:
gene_symbol: TWIST1
disease_id: OMIM:617746
disease_name: SWEENEY-COX SYNDROME
gene_symbol: SMOC1
disease_id: OMIM:206920
disease_name: MICROPHTHALMIA WITH LIMB ANOMALIES
Phenotype: 2-4 toe syndactyly (HP:0010714)
Associated genes and diseases:
gene_symbol: PIK3CA
disease_id: ORPHA:276280
disease_name: Hemihyperplasia-multiple lipomatosis syndrome
HHML
gene_symbol: CKAP2L
disease_id: OMIM:272440
disease_name: FILIPPI SYNDROME
gene_symbol: IFT43
disease_id: OMIM:614099
disease_name: CRANIOECTODERMAL DYSPLASIA 3
Phenotype: 1-5 toe syndactyly (HP:0010713)
Associated genes and diseases:
gene_symbol: GLI3
disease_id: OMIM:174700
disease_name: POLYDACTYLY, PREAXIAL IV
Phenotype: 1-4 toe syndactyly (HP:0010712)
Associated genes and diseases:
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
Phenotype: 1-2 toe syndactyly (HP:0010711)
Associated genes and diseases:
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SMC1A
disease_id: OMIM:301044
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS
gene_symbol: MAP3K20
disease_id: ORPHA:488232
disease_name: Split-foot malformation-mesoaxial polydactyly syndrome
SFMMP
Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome
gene_symbol: MAP3K20
disease_id: OMIM:616890
disease_name: SPLIT-FOOT MALFORMATION WITH MESOAXIAL POLYDACTYLY
Phenotype: Endolymphatic sac tumor (HP:0030393)
Associated genes and diseases:
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
Phenotype: Choroid plexus carcinoma (HP:0030392)
Associated genes and diseases:
gene_symbol: TP53
disease_id: OMIM:202300
disease_name: ADRENOCORTICAL CARCINOMA, HEREDITARY
gene_symbol: TP53
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: SMARCB1
disease_id: OMIM:609322
disease_name: RHABDOID TUMOR PREDISPOSITION SYNDROME 1
gene_symbol: CDKN2A
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: MDM2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
gene_symbol: CHEK2
disease_id: ORPHA:524
disease_name: Li-Fraumeni syndrome
Phenotype: Spoken word recognition deficit (HP:0030391)
Associated genes and diseases:
gene_symbol: MAPT
disease_id: ORPHA:240112
disease_name: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
PSP-AOS
PSP-PNFA
Progressive supranuclear palsy-apraxia of speech syndrome
gene_symbol: MAPT
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRIN2A
disease_id: ORPHA:98818
disease_name: Landau-Kleffner syndrome
Acquired epileptic aphasia
LKS
gene_symbol: CHMP2B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: GRN
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: TREM2
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: VCP
disease_id: ORPHA:100070
disease_name: Progressive non-fluent aphasia
Agramatic variant of PPA
Agramatic variant of primary progressive aphasia
Non-fluent variant PPA
gene_symbol: HSD17B10
disease_id: ORPHA:391428
disease_name: HSD10 disease, infantile type
2-methyl-3-hydroxybutyric aciduria, classic type
2-methyl-3-hydroxybutyric aciduria, infantile type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type
2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type
HSD10 deficiency, classic type
HSD10 deficiency, infantile type
HSD10 disease, classic type
MHBD deficiency, classic type
MHBD deficiency, infantile type
Phenotype: Reduced circulating leukotriene C4 concentration (HP:0030390)
Associated genes and diseases:
gene_symbol: LTC4S
disease_id: OMIM:614037
disease_name: LEUKOTRIENE C4 SYNTHASE DEFICIENCY
Phenotype: Organizing pneumonia (HP:0033670)
Associated genes and diseases:
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
Phenotype: Positive carpal Tinel sign (HP:0033672)
Associated genes and diseases:
gene_symbol: COMP
disease_id: OMIM:619161
disease_name: CARPAL TUNNEL SYNDROME 2
Phenotype: Positive Phalen test (HP:0033673)
Associated genes and diseases:
gene_symbol: COMP
disease_id: OMIM:619161
disease_name: CARPAL TUNNEL SYNDROME 2
Phenotype: Acute respiratory distress syndrome (HP:0033677)
Associated genes and diseases:
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: USP18
disease_id: OMIM:617397
disease_name: PSEUDO-TORCH SYNDROME 2
Phenotype: Prominent corneal nerve fibers (HP:0010726)
Associated genes and diseases:
gene_symbol: SOS2
disease_id: OMIM:616559
disease_name: NOONAN SYNDROME 9
gene_symbol: LZTR1
disease_id: OMIM:616564
disease_name: NOONAN SYNDROME 10
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated genes and diseases:
gene_symbol: ASAH1
disease_id: ORPHA:333
disease_name: Farber disease
Acid ceramidase deficiency
Farber lipogranulomatosis
gene_symbol: ASAH1
disease_id: OMIM:228000
disease_name: FARBER LIPOGRANULOMATOSIS
gene_symbol: CTSA
disease_id: ORPHA:351
disease_name: Galactosialidosis
Goldberg syndrome
Neuraminidase deficiency with beta-galactosidase deficiency
gene_symbol: CTSA
disease_id: OMIM:256540
disease_name: GALACTOSIALIDOSIS
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
gene_symbol: SMPD1
disease_id: OMIM:257200
disease_name: NIEMANN-PICK DISEASE, TYPE A
gene_symbol: HEXB
disease_id: ORPHA:309155
disease_name: Sandhoff disease, infantile form
Beta-hexosaminidase subunit beta deficiency, infantile form
GM2 gangliosidosis, Sandhoff variant, infantile form
GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: FUCA1
disease_id: OMIM:230000
disease_name: FUCOSIDOSIS
gene_symbol: GLB1
disease_id: OMIM:230500
disease_name: GM1-GANGLIOSIDOSIS, TYPE I
gene_symbol: GLB1
disease_id: OMIM:230650
disease_name: GM1-GANGLIOSIDOSIS, TYPE III
gene_symbol: GLB1
disease_id: ORPHA:79255
disease_name: GM1 gangliosidosis type 1
Infantile GM1 gangliosidosis
Norman-Landing disease
gene_symbol: GALC
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: PSAP
disease_id: ORPHA:206436
disease_name: Infantile Krabbe disease
Krabbe disease, classic form
Krabbe disease, early-onset
gene_symbol: NEU1
disease_id: OMIM:256550
disease_name: NEURAMINIDASE DEFICIENCY
gene_symbol: NEU1
disease_id: ORPHA:93399
disease_name: Juvenile sialidosis type 2
gene_symbol: NEU1
disease_id: ORPHA:812
disease_name: Sialidosis type 1
Cherry-red spot-myoclonus syndrome
Lipomucopolysaccharidosis
Normomorphic sialidosis
gene_symbol: NEU1
disease_id: ORPHA:93400
disease_name: Congenital sialidosis type 2
gene_symbol: HEXA
disease_id: OMIM:272800
disease_name: TAY-SACHS DISEASE
gene_symbol: DARS1
disease_id: OMIM:615281
disease_name: HYPOMYELINATION WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LEG SPASTICITY
gene_symbol: GM2A
disease_id: ORPHA:309246
disease_name: GM2 gangliosidosis, AB variant
Hexosaminidase activator deficiency
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
Phenotype: Advanced pneumatization of the mastoid process (HP:0010724)
Associated genes and diseases:
gene_symbol: CDH11
disease_id: ORPHA:1299
disease_name: Branchioskeletogenital syndrome
BSG syndrome
Elsahy-Waters syndrome
Phenotype: Cystic lesions of the pinnae (HP:0010723)
Associated genes and diseases:
gene_symbol: SLC26A2
disease_id: OMIM:222600
disease_name: DIASTROPHIC DYSPLASIA
Phenotype: Asymmetry of the ears (HP:0010722)
Associated genes and diseases:
gene_symbol: RAB3GAP2
disease_id: OMIM:614225
disease_name: WARBURG MICRO SYNDROME 2
gene_symbol: PUF60
disease_id: ORPHA:508488
disease_name: 8q24.3 microdeletion syndrome
Del(8)(q24.3)
Deletion 8q24.3
Monosomy 8q24.3
gene_symbol: SMS
disease_id: ORPHA:3063
disease_name: X-linked intellectual disability, Snyder type
Snyder-Robinson syndrome
gene_symbol: BCOR
disease_id: OMIM:300166
disease_name: MICROPHTHALMIA, SYNDROMIC 2
gene_symbol: GAD1
disease_id: OMIM:619124
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89
gene_symbol: ASH1L
disease_id: OMIM:617796
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 52
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
Phenotype: Pilocytic astrocytoma (HP:0033680)
Associated genes and diseases:
gene_symbol: NF1
disease_id: OMIM:162200
disease_name: NEUROFIBROMATOSIS, TYPE I
Phenotype: Oligodendroglioma (HP:0033681)
Associated genes and diseases:
gene_symbol: PTEN
disease_id: OMIM:613028
disease_name: GLIOMA SUSCEPTIBILITY 2
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
Phenotype: Pleomorphic xanthoastrocytoma (HP:0033682)
Associated genes and diseases:
gene_symbol: MLH1
disease_id: OMIM:276300
disease_name: MISMATCH REPAIR CANCER SYNDROME 1
Phenotype: Fiber type grouping (HP:0033685)
Associated genes and diseases:
gene_symbol: EMILIN1
disease_id: OMIM:620080
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 10
gene_symbol: TWNK
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: TWNK
disease_id: OMIM:271245
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE)
gene_symbol: POLG
disease_id: OMIM:607459
disease_name: SENSORY ATAXIC NEUROPATHY, DYSARTHRIA, AND OPHTHALMOPARESIS
gene_symbol: COL6A1
disease_id: OMIM:158810
disease_name: BETHLEM MYOPATHY 1
gene_symbol: TPM2
disease_id: OMIM:609285
disease_name: NEMALINE MYOPATHY 4
gene_symbol: SLC5A6
disease_id: OMIM:619903
disease_name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE
gene_symbol: YME1L1
disease_id: OMIM:617302
disease_name: OPTIC ATROPHY 11
gene_symbol: ANXA11
disease_id: OMIM:619733
disease_name: INCLUSION BODY MYOPATHY AND BRAIN WHITE MATTER ABNORMALITIES
gene_symbol: MYH14
disease_id: OMIM:614369
disease_name: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS
gene_symbol: LRP12
disease_id: OMIM:620452
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 28
gene_symbol: SPTLC1
disease_id: OMIM:620285
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE
gene_symbol: REEP1
disease_id: OMIM:620011
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6
gene_symbol: GDAP1
disease_id: OMIM:608340
disease_name: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE A
Phenotype: Mitochondrial hypertrophy (HP:0033686)
Associated genes and diseases:
gene_symbol: GGPS1
disease_id: OMIM:619518
disease_name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME
gene_symbol: CHKB
disease_id: OMIM:602541
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, MEGACONIAL TYPE