TaoMedAI/RareMedData huggingface dataset:
Phenotype: Myelopathy (HP:0002196)
Associated genes and diseases:
gene_symbol: NAXE
disease_id: OMIM:617186
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1
gene_symbol: ABCD1
disease_id: ORPHA:139396
disease_name: X-linked cerebral adrenoleukodystrophy
X-CALD
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: DKK1
disease_id: ORPHA:268882
disease_name: Arnold-Chiari malformation type I
Arnold-Chiari malformation type 1
Chiari malformation type 1
Chiari malformation type I
gene_symbol: RASA1
disease_id: ORPHA:90307
disease_name: Parkes Weber syndrome
gene_symbol: BTD
disease_id: ORPHA:79241
disease_name: Biotinidase deficiency
Juvenile-onset multiple carboxylase deficiency
Late-onset multiple carboxylase deficiency
gene_symbol: NF2
disease_id: ORPHA:637
disease_name: Full NF2-related schwannomatosis
Full NF2
Full neurofibromatosis type 2
Nonmosaic NF2-related schwannomatosis
Nonmosaic neurofibromatosis type 2
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: GLB1
disease_id: OMIM:253010
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVB
gene_symbol: EXT1
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT1
disease_id: OMIM:133700
disease_name: EXOSTOSES, MULTIPLE, TYPE I
gene_symbol: EXT2
disease_id: ORPHA:321
disease_name: Multiple osteochondromas
Bessel-Hagen disease
Multiple cartilaginous exostoses
gene_symbol: EXT2
disease_id: OMIM:133701
disease_name: EXOSTOSES, MULTIPLE, TYPE II
gene_symbol: GALNS
disease_id: OMIM:253000
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IVA
gene_symbol: NMNAT1
disease_id: OMIM:619260
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, SENSORINEURAL HEARING LOSS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND LEBER CONGENITAL AMAUROSIS
gene_symbol: COL2A1
disease_id: OMIM:183900
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
Phenotype: Pseudobulbar affect (HP:0002193)
Associated genes and diseases:
gene_symbol: ALS2
disease_id: OMIM:205100
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:293168
disease_name: Infantile-onset ascending hereditary spastic paralysis
IAHSP
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
gene_symbol: ALS2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: ERLIN2
disease_id: ORPHA:247604
disease_name: Juvenile primary lateral sclerosis
JPLS
Juvenile PLS
gene_symbol: PUS3
disease_id: ORPHA:488627
disease_name: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Phenotype: Choroid plexus cyst (HP:0002190)
Associated genes and diseases:
gene_symbol: FH
disease_id: OMIM:606812
disease_name: FUMARASE DEFICIENCY
gene_symbol: FOXF1
disease_id: OMIM:265380
disease_name: ALVEOLAR CAPILLARY DYSPLASIA WITH MISALIGNMENT OF PULMONARY VEINS
gene_symbol: NPHP3
disease_id: OMIM:267010
disease_name: MECKEL SYNDROME, TYPE 7
gene_symbol: EXOC8
disease_id: OMIM:619076
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY
gene_symbol: NEDD4L
disease_id: OMIM:617201
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 7
gene_symbol: ZFX
disease_id: OMIM:301118
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37
gene_symbol: IFT43
disease_id: OMIM:617866
disease_name: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY
gene_symbol: ZBTB18
disease_id: OMIM:612337
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 22
gene_symbol: ZSWIM6
disease_id: ORPHA:1827
disease_name: Acromelic frontonasal dysplasia
AFND
Acromelic frontonasal dysostosis
Toriello syndrome
gene_symbol: ZSWIM6
disease_id: OMIM:603671
disease_name: ACROMELIC FRONTONASAL DYSOSTOSIS
gene_symbol: SETBP1
disease_id: ORPHA:798
disease_name: Schinzel-Giedion syndrome
SGS
gene_symbol: PHGDH
disease_id: OMIM:256520
disease_name: NEU-LAXOVA SYNDROME 1
Phenotype: Laryngeal calcification (HP:0008754)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: ARSL
disease_id: ORPHA:79345
disease_name: Brachytelephalangic chondrodysplasia punctata
gene_symbol: PTH1R
disease_id: OMIM:215045
disease_name: CHONDRODYSPLASIA, BLOMSTRAND TYPE
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated genes and diseases:
gene_symbol: KRAS
disease_id: ORPHA:3339
disease_name: Oculoectodermal syndrome
Aplasia cutis congenita-epibulbar dermoids syndrome
gene_symbol: CILK1
disease_id: OMIM:612651
disease_name: ENDOCRINE-CEREBROOSTEODYSPLASIA
gene_symbol: INTU
disease_id: OMIM:617925
disease_name: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY
gene_symbol: PRRX1
disease_id: OMIM:202650
disease_name: AGNATHIA-OTOCEPHALY COMPLEX
gene_symbol: FREM2
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: FRAS1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: GRIP1
disease_id: ORPHA:2052
disease_name: Fraser syndrome
Cryptophthalmos-syndactyly syndrome
gene_symbol: SF3B4
disease_id: OMIM:154400
disease_name: ACROFACIAL DYSOSTOSIS 1, NAGER TYPE
gene_symbol: HYLS1
disease_id: OMIM:236680
disease_name: HYDROLETHALUS SYNDROME 1
Phenotype: Coronal hypospadias (HP:0008743)
Associated genes and diseases:
gene_symbol: PAICS
disease_id: OMIM:619859
disease_name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY
gene_symbol: FGFR2
disease_id: OMIM:149730
disease_name: LACRIMOAURICULODENTODIGITAL SYNDROME
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: TBX22
disease_id: ORPHA:921
disease_name: Abruzzo-Erickson syndrome
CHARGE-like syndrome
Cleft palate-coloboma-deafness syndrome
Cleft palate-coloboma-hearing loss syndrome
Phenotype: Vocal cord paresis (HP:0001604)
Associated genes and diseases:
gene_symbol: LONP1
disease_id: OMIM:600373
disease_name: CODAS SYNDROME
gene_symbol: GDAP1
disease_id: OMIM:607706
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE
gene_symbol: GDAP1
disease_id: ORPHA:99948
disease_name: Charcot-Marie-Tooth disease type 4A
CMT4A
gene_symbol: GDAP1
disease_id: ORPHA:101097
disease_name: Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
ARCMT2K
Autosomal recessive axonal CMT4C4
Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K
gene_symbol: SLC5A7
disease_id: OMIM:158580
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA
gene_symbol: JAG1
disease_id: OMIM:619574
disease_name: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2HH
gene_symbol: PRX
disease_id: OMIM:614895
disease_name: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F
gene_symbol: TRPV4
disease_id: OMIM:606071
disease_name: HEREDITARY MOTOR AND SENSORY NEUROPATHY, TYPE IIC
gene_symbol: SH3TC2
disease_id: ORPHA:99949
disease_name: Charcot-Marie-Tooth disease type 4C
CMT4C
gene_symbol: MFN2
disease_id: OMIM:601152
disease_name: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY
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: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: HAAO
disease_id: OMIM:617660
disease_name: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1
gene_symbol: DST
disease_id: OMIM:614653
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
Phenotype: Abnormal aryepiglottic fold morphology (HP:0008744)
Associated genes and diseases:
gene_symbol: SCARF2
disease_id: ORPHA:2460
disease_name: Van den Ende-Gupta syndrome
Marden-Walker-like syndrome
VDEGS
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: Cartilaginous ossification of larynx (HP:0008747)
Associated genes and diseases:
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: MGP
disease_id: OMIM:245150
disease_name: KEUTEL SYNDROME
Phenotype: Absent specific antibody response (HP:0005424)
Associated genes and diseases:
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: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
Phenotype: Carcinoid tumor (HP:0100570)
Associated genes and diseases:
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: LMNA
disease_id: ORPHA:363618
disease_name: LMNA-related cardiocutaneous progeria syndrome
LCPS
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: MEN1
disease_id: OMIM:131100
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: OMIM:610755
disease_name: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV
gene_symbol: CDKN1B
disease_id: ORPHA:276152
disease_name: Multiple endocrine neoplasia type 4
MEN4
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
gene_symbol: IFNG
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC1
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: TSC2
disease_id: ORPHA:805
disease_name: Tuberous sclerosis complex
Bourneville syndrome
Tuberous sclerosis
gene_symbol: SDHD
disease_id: ORPHA:100093
disease_name: Carcinoid syndrome
Malignant carcinoid syndrome
Phenotype: Cardiac diverticulum (HP:0100571)
Associated genes and diseases:
gene_symbol: SEMA4A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: ATM
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: NPAT
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLE
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BMPR1A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: RPS20
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: MUTYH
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLD1
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: CHEK2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
Phenotype: Neoplasm of the gallbladder (HP:0100575)
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: PSAP
disease_id: ORPHA:309271
disease_name: Metachromatic leukodystrophy, adult form
Arylsulfatase A deficiency, adult form
MLD, adult form
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
Phenotype: Urinary bladder inflammation (HP:0100577)
Associated genes and diseases:
gene_symbol: ITGA6
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
gene_symbol: ITGB4
disease_id: ORPHA:79403
disease_name: Junctional epidermolysis bullosa with pyloric atresia
Carmi syndrome
JEB with pyloric atresia
JEB-PA
Phenotype: Dysfunctional alternative complement pathway (HP:0005423)
Associated genes and diseases:
gene_symbol: CFP
disease_id: OMIM:312060
disease_name: PROPERDIN DEFICIENCY, X-LINKED
Phenotype: Absence of CD8-positive T cells (HP:0005422)
Associated genes and diseases:
gene_symbol: ZAP70
disease_id: OMIM:269840
disease_name: IMMUNODEFICIENCY 48
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: CD8A
disease_id: OMIM:608957
disease_name: CD8 DEFICIENCY, FAMILIAL
Phenotype: Laryngeal atresia (HP:0008750)
Associated genes and diseases:
gene_symbol: ZIC3
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: FANCB
disease_id: OMIM:314390
disease_name: VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
gene_symbol: FRAS1
disease_id: OMIM:219000
disease_name: FRASER SYNDROME 1
Phenotype: Laryngeal cleft (HP:0008751)
Associated genes and diseases:
gene_symbol: MID1
disease_id: ORPHA:2745
disease_name: Opitz GBBB syndrome
Hypertelorism-hypospadias syndrome
Hypertelorism-oesophageal abnormality-hypospadias syndrome
Hypospadias-dysphagia syndrome
Opitz BBB/G syndrome
Opitz BBBG syndrome
Opitz G/BBB syndrome
Opitz-Frias syndrome
gene_symbol: MID1
disease_id: OMIM:300000
disease_name: OPITZ GBBB SYNDROME, TYPE I
gene_symbol: GLI3
disease_id: ORPHA:672
disease_name: Pallister-Hall syndrome
Hypothalamic hamartoblastoma syndrome
gene_symbol: GLI3
disease_id: OMIM:146510
disease_name: PALLISTER-HALL SYNDROME
gene_symbol: CAPN15
disease_id: OMIM:619318
disease_name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME
gene_symbol: EDN1
disease_id: OMIM:615706
disease_name: AURICULOCONDYLAR SYNDROME 3
gene_symbol: FBXW7
disease_id: OMIM:620012
disease_name: DEVELOPMENTAL DELAY, HYPOTONIA, AND IMPAIRED LANGUAGE
gene_symbol: PHIP
disease_id: OMIM:617991
disease_name: CHUNG-JANSEN SYNDROME
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
Phenotype: Aplasia of the epiglottis (HP:0008753)
Associated genes and diseases:
gene_symbol: C2CD3
disease_id: OMIM:615948
disease_name: OROFACIODIGITAL SYNDROME XIV
gene_symbol: C2CD3
disease_id: ORPHA:434179
disease_name: Orofaciodigital syndrome type 14
Microcephaly-cerebral malformation-orofaciodigital syndrome
OFD14
Oral-facial-digital syndrome type 14
gene_symbol: DYNC2LI1
disease_id: OMIM:617088
disease_name: SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY
gene_symbol: EIF4A3
disease_id: OMIM:268305
disease_name: ROBIN SEQUENCE WITH CLEFT MANDIBLE AND LIMB ANOMALIES
Phenotype: Laryngotracheomalacia (HP:0008755)
Associated genes and diseases:
gene_symbol: FLNB
disease_id: ORPHA:56305
disease_name: Atelosteogenesis type III
AO3
AOIII
Atelosteogenesis type 3
gene_symbol: FLNB
disease_id: ORPHA:503
disease_name: Larsen syndrome
gene_symbol: COL2A1
disease_id: ORPHA:485
disease_name: Kniest dysplasia
gene_symbol: COL2A1
disease_id: ORPHA:94068
disease_name: Spondyloepiphyseal dysplasia congenita
Congenital spondyloepiphyseal dysplasia
SEDC
Spranger-Wiedemann disease
gene_symbol: COL2A1
disease_id: ORPHA:93346
disease_name: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
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: KIF22
disease_id: OMIM:603546
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2
gene_symbol: TRRAP
disease_id: OMIM:618454
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT DYSMORPHIC FACIES AND AUTISM
gene_symbol: EMC1
disease_id: OMIM:616875
disease_name: CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
gene_symbol: EMC1
disease_id: ORPHA:480898
disease_name: Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
gene_symbol: HK1
disease_id: OMIM:618547
disease_name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
gene_symbol: TONSL
disease_id: OMIM:271510
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE
Phenotype: Bowing of the vocal cords (HP:0008756)
Associated genes and diseases:
gene_symbol: MATR3
disease_id: OMIM:606070
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 21
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: LRP12
disease_id: OMIM:164310
disease_name: OCULOPHARYNGODISTAL MYOPATHY 1
gene_symbol: LRP12
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: RILPL1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: ABCD3
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: GIPC1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NOTCH2NLC
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
gene_symbol: NUTM2B-AS1
disease_id: ORPHA:98897
disease_name: Oculopharyngodistal myopathy
OPDM
Oculopharyngeal distal myopathy
Phenotype: Unilateral vocal cord paralysis (HP:0008757)
Associated genes and diseases:
gene_symbol: POLA1
disease_id: OMIM:301030
disease_name: VAN ESCH-O'DRISCOLL SYNDROME
Phenotype: Decreased circulating complement factor B concentration (HP:0005416)
Associated genes and diseases:
gene_symbol: CFI
disease_id: OMIM:610984
disease_name: COMPLEMENT FACTOR I DEFICIENCY
gene_symbol: CFHR3
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFH
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFHR1
disease_id: OMIM:235400
disease_name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1
gene_symbol: CFB
disease_id: OMIM:615561
disease_name: COMPLEMENT FACTOR B DEFICIENCY
Phenotype: Decreased CD8+ T cell proportion (HP:0005415)
Associated genes and diseases:
gene_symbol: EXTL3
disease_id: ORPHA:508533
disease_name: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
EXTL3-related neuro-immuno-skeletal dysplasia syndrome
Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency
gene_symbol: IL7R
disease_id: ORPHA:169154
disease_name: T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ SCID due to IL-7Ralpha deficiency
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: WIPF1
disease_id: OMIM:614493
disease_name: WISKOTT-ALDRICH SYNDROME 2
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: IL2RG
disease_id: OMIM:312863
disease_name: COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: CD8A
disease_id: OMIM:608957
disease_name: CD8 DEFICIENCY, FAMILIAL
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated genes and diseases:
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: CD40
disease_id: OMIM:606843
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: IL2RG
disease_id: OMIM:300400
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
Phenotype: Prominent frontal sinuses (HP:0005478)
Associated genes and diseases:
gene_symbol: KCNJ2
disease_id: OMIM:170390
disease_name: ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
gene_symbol: MPDU1
disease_id: ORPHA:79323
disease_name: MPDU1-CDG
CDG syndrome type If
CDG-If
CDG1F
Carbohydrate deficient glycoprotein syndrome type If
Congenital disorder of glycosylation type 1f
Congenital disorder of glycosylation type If
Phenotype: Barrett esophagus (HP:0100580)
Associated genes and diseases:
gene_symbol: ASCC1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: CTHRC1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: MSR1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: RAD21
disease_id: OMIM:611376
disease_name: MUNGAN SYNDROME
gene_symbol: MYH11
disease_id: OMIM:619350
disease_name: VISCERAL MYOPATHY 2
gene_symbol: FH
disease_id: ORPHA:523
disease_name: Hereditary leiomyomatosis and renal cell cancer
Familial leiomyomatosis and renal cell cancer
Familial leiomyomatosis cutis et uteri
Familial leiomyomatosis with renal carcinoma
Familial multiple cutaneous leiomyomas
HLRCC
Hereditary leiomyomatosis
Hereditary leiomyomatosis with renal carcinoma
Hereditary multiple cutaneous leiomyomas
MCUL
Multiple cutaneous and uterine leiomyomas
Reed syndrome
gene_symbol: ERBB2
disease_id: ORPHA:99976
disease_name: Adenocarcinoma of the esophagus
Esophageal adenocarcinoma