Phenotype: Abnormal leukocyte physiology (HP:0033796)
Associated genes and diseases:
gene_symbol: DCLRE1C
disease_id: ORPHA:275
disease_name: Severe combined immunodeficiency due to DCLRE1C deficiency
SCID due to ARTEMIS deficiency
SCID due to DCLRE1C deficiency
SCID, Athabascan type
SCID, Athabaskan type
Severe combined immunodeficiency due to ARTEMIS deficiency
Severe combined immunodeficiency, Athabascan type
Severe combined immunodeficiency, Athabaskan type
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: LCK
disease_id: OMIM:615758
disease_name: IMMUNODEFICIENCY 22
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: POLD1
disease_id: OMIM:620836
disease_name: IMMUNODEFICIENCY 120
gene_symbol: KMT2D
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: ORPHA:2322
disease_name: Kabuki syndrome
Kabuki make-up syndrome
Niikawa-Kuroki syndrome
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: IGLL1
disease_id: OMIM:613500
disease_name: AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE
gene_symbol: FLII
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: IQSEC2
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: RAI1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: DEAF1
disease_id: ORPHA:819
disease_name: Smith-Magenis syndrome
17p11.2 microdeletion syndrome
gene_symbol: BLNK
disease_id: OMIM:613502
disease_name: AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE
gene_symbol: CBLB
disease_id: OMIM:620430
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 3
gene_symbol: SEC61A1
disease_id: OMIM:620670
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 15
gene_symbol: TYMS
disease_id: OMIM:620040
disease_name: DYSKERATOSIS CONGENITA, DIGENIC
gene_symbol: ORAI1
disease_id: OMIM:612782
disease_name: IMMUNODEFICIENCY 9
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: STIM1
disease_id: OMIM:612783
disease_name: IMMUNODEFICIENCY 10
gene_symbol: TNFRSF11A
disease_id: OMIM:612301
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: CPLX1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: PIGG
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NELFA
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: CTBP1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: LETM1
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: NSD2
disease_id: ORPHA:280
disease_name: Wolf-Hirschhorn syndrome
4p- syndrome
Distal deletion 4p
Distal monosomy 4p
Telomeric deletion 4p
gene_symbol: MTOR
disease_id: ORPHA:457485
disease_name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MINDS syndrome
Smith-Kingsmore syndrome
gene_symbol: MTOR
disease_id: OMIM:616638
disease_name: SMITH-KINGSMORE SYNDROME
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: IPO8
disease_id: OMIM:619472
disease_name: VISS SYNDROME
gene_symbol: PIK3R1
disease_id: ORPHA:693681
disease_name: ORPHA:693681
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: PIGT
disease_id: ORPHA:369837
disease_name: Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Congenital disorder of glycosylation due to PIGT deficiency
MCAHS type 3
Multiple congenital anomalies-hypotonia-seizures syndrome type 3
PIGT-CDG
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: ITCH
disease_id: OMIM:613385
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM
gene_symbol: CD79B
disease_id: OMIM:612692
disease_name: AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: ZNF341
disease_id: OMIM:618282
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 3, AUTOSOMAL RECESSIVE
gene_symbol: DOCK11
disease_id: OMIM:301109
disease_name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED
gene_symbol: PRIM1
disease_id: OMIM:620005
disease_name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME
gene_symbol: IGHG2
disease_id: ORPHA:183675
disease_name: Recurrent infections associated with rare immunoglobulin isotypes deficiency
IgG subclass deficiency with IgA subclass deficiency
Isolated IgG subclass deficiency
Kappa-chain deficiency
Selective IgG subclass deficiency
gene_symbol: SPI1
disease_id: OMIM:619707
disease_name: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT
gene_symbol: CAVIN1
disease_id: OMIM:613327
disease_name: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: IL2RA
disease_id: OMIM:606367
disease_name: IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: CD40
disease_id: OMIM:606843
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 3
gene_symbol: CD40LG
disease_id: OMIM:308230
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 1
gene_symbol: SH3KBP1
disease_id: OMIM:300310
disease_name: IMMUNODEFICIENCY 61
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: LAMTOR2
disease_id: OMIM:610798
disease_name: IMMUNODEFICIENCY DUE TO DEFECT IN MAPBP-INTERACTING PROTEIN
gene_symbol: SIK3
disease_id: OMIM:618162
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE
gene_symbol: POLE
disease_id: OMIM:615139
disease_name: FACIAL DYSMORPHISM, IMMUNODEFICIENCY, LIVEDO, AND SHORT STATURE
gene_symbol: DOCK8
disease_id: OMIM:243700
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62
gene_symbol: NAE1
disease_id: OMIM:620210
disease_name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA
gene_symbol: AICDA
disease_id: OMIM:605258
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2
gene_symbol: UNG
disease_id: OMIM:608106
disease_name: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 5
gene_symbol: NBN
disease_id: OMIM:251260
disease_name: NIJMEGEN BREAKAGE SYNDROME
gene_symbol: EPG5
disease_id: OMIM:242840
disease_name: VICI SYNDROME
gene_symbol: RAB27A
disease_id: OMIM:607624
disease_name: GRISCELLI SYNDROME, TYPE 2
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
gene_symbol: SKIC2
disease_id: ORPHA:84064
disease_name: Syndromic diarrhea
Phenotypic diarrhea
SD/THE
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Tricho-hepato-enteric syndrome
Trichohepatoenteric syndrome
gene_symbol: IL21R
disease_id: OMIM:615207
disease_name: IMMUNODEFICIENCY 56
gene_symbol: GTF2H5
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: CARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: RNF113A
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: MPLKIP
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: TARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: AARS1
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: ERCC3
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: GTF2E2
disease_id: ORPHA:33364
disease_name: Trichothiodystrophy
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: CYBC1
disease_id: OMIM:618935
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5
gene_symbol: CYBB
disease_id: OMIM:306400
disease_name: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED
gene_symbol: NCF1
disease_id: OMIM:233700
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 1
gene_symbol: SPPL2A
disease_id: OMIM:619549
disease_name: IMMUNODEFICIENCY 86
gene_symbol: CYBA
disease_id: OMIM:233690
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 4
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
gene_symbol: CARD9
disease_id: OMIM:212050
disease_name: CANDIDIASIS, FAMILIAL, 2
gene_symbol: NCKAP1L
disease_id: OMIM:618982
disease_name: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION
gene_symbol: CARD10
disease_id: OMIM:619632
disease_name: IMMUNODEFICIENCY 89 AND AUTOIMMUNITY
gene_symbol: CDSN
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: KRT74
disease_id: ORPHA:90368
disease_name: Hypotrichosis simplex of the scalp
Hereditary hypotrichosis simplex of the scalp
gene_symbol: STAT5B
disease_id: OMIM:618985
disease_name: GROWTH HORMONE INSENSITIVITY SYNDROME WITH IMMUNE DYSREGULATION 2, AUTOSOMAL DOMINANT
gene_symbol: FOXP3
disease_id: OMIM:304790
disease_name: IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED
gene_symbol: FOXP3
disease_id: ORPHA:37042
disease_name: Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune enteropathy type 1
IPEX
gene_symbol: KRT9
disease_id: OMIM:144200
disease_name: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC
gene_symbol: COL7A1
disease_id: ORPHA:89843
disease_name: Dystrophic epidermolysis bullosa pruriginosa
DEB pruriginosa
DEB-Pr
Pruriginous dystrophic epidermolysis bullosa
gene_symbol: TYK2
disease_id: OMIM:611521
disease_name: IMMUNODEFICIENCY 35
gene_symbol: IRAK4
disease_id: OMIM:607676
disease_name: IMMUNODEFICIENCY 67
gene_symbol: GPC4
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: GPC3
disease_id: ORPHA:373
disease_name: Simpson-Golabi-Behmel syndrome
DGSX
Golabi-Rosen syndrome
SDYS
SGBS
SGBS1
Simpson dysmorphia syndrome
Simpson-Golabi-Behmel syndrome type 1
X-linked dysplasia gigantism syndrome
gene_symbol: EGFR
disease_id: OMIM:616069
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2
gene_symbol: ADAM17
disease_id: OMIM:614328
disease_name: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1
gene_symbol: ARPC5
disease_id: OMIM:620565
disease_name: IMMUNODEFICIENCY 113 WITH AUTOIMMUNITY AND AUTOINFLAMMATION
gene_symbol: DSG1
disease_id: OMIM:615508
disease_name: ERYTHRODERMA, CONGENITAL, WITH PALMOPLANTAR KERATODERMA, HYPOTRICHOSIS, AND HYPER-IgE
gene_symbol: STAT6
disease_id: OMIM:620532
disease_name: HYPER-IgE SYNDROME 6, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS
gene_symbol: STING1
disease_id: OMIM:615934
disease_name: STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET
gene_symbol: TPP2
disease_id: OMIM:619220
disease_name: IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY
gene_symbol: NLRP1
disease_id: OMIM:617388
disease_name: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS
gene_symbol: IL2RB
disease_id: OMIM:618495
disease_name: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY
gene_symbol: IFNGR1
disease_id: OMIM:209950
disease_name: IMMUNODEFICIENCY 27A
gene_symbol: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: MVK
disease_id: ORPHA:343
disease_name: Hyperimmunoglobulinemia D with periodic fever
HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: IL12RB1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNPO3
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IL12A
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: SPIB
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: POU2AF1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: TNFSF15
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: MMEL1
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
gene_symbol: IRF5
disease_id: ORPHA:186
disease_name: Primary biliary cholangitis
Hanot syndrome
PBC
Primary biliary cirrhosis
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
gene_symbol: MYD88
disease_id: OMIM:153600
disease_name: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1
gene_symbol: KLHDC8B
disease_id: OMIM:236000
disease_name: LYMPHOMA, HODGKIN, CLASSIC
gene_symbol: ATP6AP2
disease_id: OMIM:301045
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr
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: EXTL3
disease_id: OMIM:617425
disease_name: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES
gene_symbol: PLVAP
disease_id: OMIM:618183
disease_name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: RTEL1
disease_id: OMIM:615190
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
gene_symbol: RECQL4
disease_id: ORPHA:3021
disease_name: RAPADILINO syndrome
gene_symbol: NFKB2
disease_id: ORPHA:293978
disease_name: Deficiency in anterior pituitary function-variable immunodeficiency syndrome
DAVID syndrome
gene_symbol: IKBKB
disease_id: OMIM:615592
disease_name: IMMUNODEFICIENCY 15B
gene_symbol: FBXL4
disease_id: OMIM:615471
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 13 (ENCEPHALOMYOPATHIC TYPE)
gene_symbol: PTEN
disease_id: OMIM:605309
disease_name: MACROCEPHALY/AUTISM SYNDROME
gene_symbol: PTEN
disease_id: OMIM:158350
disease_name: COWDEN SYNDROME 1
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: CCNO
disease_id: OMIM:615872
disease_name: CILIARY DYSKINESIA, PRIMARY, 29
gene_symbol: RNU4ATAC
disease_id: ORPHA:353298
disease_name: Roifman syndrome
Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
gene_symbol: RIPK1
disease_id: OMIM:618108
disease_name: IMMUNODEFICIENCY 57 WITH AUTOINFLAMMATION
gene_symbol: SLC46A1
disease_id: ORPHA:90045
disease_name: Hereditary folate malabsorption
Congenital folate malabsorption
gene_symbol: FLNA
disease_id: ORPHA:99811
disease_name: Neuronal intestinal pseudoobstruction
gene_symbol: MTHFD1
disease_id: OMIM:617780
disease_name: COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
gene_symbol: CD27
disease_id: OMIM:615122
disease_name: LYMPHOPROLIFERATIVE SYNDROME 2
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: NFKB1
disease_id: OMIM:616576
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 12
gene_symbol: MYSM1
disease_id: OMIM:618116
disease_name: BONE MARROW FAILURE SYNDROME 4
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: NHEJ1
disease_id: ORPHA:169079
disease_name: Cernunnos-XLF deficiency
Cernunnos XLFD
Cernunnos deficiency
Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome
NHEJ1 deficiency
gene_symbol: RMRP
disease_id: ORPHA:175
disease_name: Cartilage-hair hypoplasia
Autosomal recessive metaphyseal chondrodysplasia
Metaphyseal chondrodysplasia, McKusick type
gene_symbol: TFRC
disease_id: OMIM:616740
disease_name: IMMUNODEFICIENCY 46
gene_symbol: ATP6AP1
disease_id: OMIM:300972
disease_name: IMMUNODEFICIENCY 47
gene_symbol: MAN2B1
disease_id: OMIM:248500
disease_name: MANNOSIDOSIS, ALPHA B, LYSOSOMAL
gene_symbol: RAD50
disease_id: OMIM:613078
disease_name: NIJMEGEN BREAKAGE SYNDROME-LIKE DISORDER
gene_symbol: CXCR4
disease_id: OMIM:193670
disease_name: WHIM SYNDROME
gene_symbol: CXCR4
disease_id: ORPHA:51636
disease_name: WHIM syndrome
WILM
Warts-hypogammaglobulinemia-infections-myelokathexis syndrome
Warts-infections-leukopenia-myelokatexis syndrome
gene_symbol: RAG1
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: RAG2
disease_id: ORPHA:331206
disease_name: Severe combined immunodeficiency due to complete RAG1/2 deficiency
SCID due to complete RAG1/2 deficiency
gene_symbol: MOGS
disease_id: OMIM:606056
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIb
gene_symbol: MOGS
disease_id: ORPHA:79330
disease_name: MOGS-CDG
CDG syndrome type IIb
CDG-IIb
CDG2B
Carbohydrate deficient glycoprotein syndrome type IIb
Congenital disorder of glycosylation type 2b
Congenital disorder of glycosylation type IIb
Glucosidase 1 deficiency
gene_symbol: CNBP
disease_id: ORPHA:606
disease_name: Proximal myotonic myopathy
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: MSN
disease_id: OMIM:300988
disease_name: IMMUNODEFICIENCY 50
gene_symbol: CARMIL2
disease_id: OMIM:618131
disease_name: IMMUNODEFICIENCY 58
gene_symbol: UHRF1
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: HELLS
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: HELLS
disease_id: OMIM:616911
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
gene_symbol: DNMT3B
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDCA7
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: CDCA7
disease_id: OMIM:616910
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3
gene_symbol: ZBTB24
disease_id: ORPHA:2268
disease_name: ICF syndrome
Immunodeficiency-centromeric instability-facial anomalies syndrome
Immunodeficiency-centromeric instability-facial dysmorphism syndrome
gene_symbol: ZBTB24
disease_id: OMIM:614069
disease_name: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 2
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: CD70
disease_id: OMIM:618261
disease_name: LYMPHOPROLIFERATIVE SYNDROME 3
gene_symbol: TTC7A
disease_id: OMIM:243150
disease_name: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME
gene_symbol: CCND1
disease_id: ORPHA:29073
disease_name: Multiple myeloma
Kahler disease
Medullary plasmacytoma
Myelomatosis
Plasma cell myeloma
gene_symbol: TRNT1
disease_id: OMIM:616084
disease_name: SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: IL6ST
disease_id: OMIM:619750
disease_name: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES
gene_symbol: STAT3
disease_id: OMIM:615952
disease_name: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
gene_symbol: ADAMTS3
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: CCBE1
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
gene_symbol: FAT4
disease_id: ORPHA:2136
disease_name: Hennekam syndrome
Lymphedema-lymphangiectasia-intellectual disability syndrome
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: KNSTRN
disease_id: ORPHA:221139
disease_name: Combined immunodeficiency with facio-oculo-skeletal anomalies
Roifman-Chitayat syndrome
gene_symbol: IGHM
disease_id: OMIM:601495
disease_name: AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE
gene_symbol: MGAT2
disease_id: ORPHA:79329
disease_name: MGAT2-CDG
CDG syndrome type IIa
CDG-IIa
CDG2A
Carbohydrate deficient glycoprotein syndrome type IIa
Congenital disorder of glycosylation type 2a
Congenital disorder of glycosylation type IIa
N-acetylglucosaminyltransferase 2 deficiency
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: CISD2
disease_id: OMIM:604928
disease_name: WOLFRAM SYNDROME 2
gene_symbol: BCL10
disease_id: OMIM:616098
disease_name: IMMUNODEFICIENCY 37
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: NFE2L2
disease_id: OMIM:617744
disease_name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: CARD11
disease_id: OMIM:615206
disease_name: IMMUNODEFICIENCY 11
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: TCN2
disease_id: ORPHA:859
disease_name: Transcobalamin deficiency
Inherited deficiency of transcobalamin
Transcobalamin II deficiency
gene_symbol: OAS1
disease_id: OMIM:618042
disease_name: PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA
gene_symbol: TP53
disease_id: OMIM:618165
disease_name: BONE MARROW FAILURE SYNDROME 5
gene_symbol: SKIC3
disease_id: OMIM:222470
disease_name: TRICHOHEPATOENTERIC SYNDROME 1
gene_symbol: IVNS1ABP
disease_id: OMIM:618969
disease_name: IMMUNODEFICIENCY 70
gene_symbol: RBM8A
disease_id: OMIM:274000
disease_name: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME
gene_symbol: BLM
disease_id: ORPHA:125
disease_name: Bloom syndrome
BSyn
gene_symbol: CD55
disease_id: OMIM:226300
disease_name: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
gene_symbol: MCTS1
disease_id: OMIM:301115
disease_name: IMMUNODEFICIENCY 118
gene_symbol: KRT5
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: KRT14
disease_id: ORPHA:79396
disease_name: Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Autosomal dominant generalized EBS, severe form
Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex, Dowling-Meara type
gene_symbol: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
gene_symbol: SPINK5
disease_id: ORPHA:634
disease_name: Netherton syndrome
Bamboo hair syndrome
Comèl-Netherton syndrome
NS
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: VPS33A
disease_id: ORPHA:505248
disease_name: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Mucopolysaccharidosis-like plus disease
gene_symbol: TRMU
disease_id: OMIM:613070
disease_name: LIVER FAILURE, INFANTILE, TRANSIENT
gene_symbol: SLC19A1
disease_id: OMIM:620603
disease_name: IMMUNODEFICIENCY 114, FOLATE-RESPONSIVE
gene_symbol: NHLRC2
disease_id: OMIM:618278
disease_name: FIBROSIS, NEURODEGENERATION, AND CEREBRAL ANGIOMATOSIS
gene_symbol: SON
disease_id: ORPHA:500150
disease_name: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome
ZTTK syndrome
Zhu-Tokita-Takenouchi-Kim syndrome
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: SLC5A6
disease_id: OMIM:618973
disease_name: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE
gene_symbol: SLC39A7
disease_id: OMIM:619693
disease_name: AGAMMAGLOBULINEMIA 9, AUTOSOMAL RECESSIVE
gene_symbol: TIMM8A
disease_id: ORPHA:52368
disease_name: Mohr-Tranebjaerg syndrome
DDON syndrome
Deafness-dystonia-optic neuronopathy syndrome
Hearing loss-dystonia-optic neuronopathy syndrome
gene_symbol: CD79A
disease_id: OMIM:613501
disease_name: AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE
gene_symbol: CD79A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: LRRC8A
disease_id: OMIM:613506
disease_name: AGAMMAGLOBULINEMIA 5, AUTOSOMAL DOMINANT
gene_symbol: LRRC8A
disease_id: ORPHA:33110
disease_name: Autosomal agammaglobulinemia
Agammaglobulinemia, non-Bruton type
gene_symbol: ADA
disease_id: ORPHA:277
disease_name: Severe combined immunodeficiency due to adenosine deaminase deficiency
ADA deficiency
SCID due to adenosine deaminase deficiency
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: RFXANK
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: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: ATM
disease_id: OMIM:208900
disease_name: ATAXIA-TELANGIECTASIA
gene_symbol: PNP
disease_id: OMIM:613179
disease_name: PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY
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: CASP8
disease_id: OMIM:607271
disease_name: CASPASE 8 DEFICIENCY
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: LEPR
disease_id: ORPHA:179494
disease_name: Obesity due to leptin receptor gene deficiency
gene_symbol: LEP
disease_id: ORPHA:66628
disease_name: Obesity due to congenital leptin deficiency
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: CTLA4
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: CD28
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: TNFRSF1B
disease_id: ORPHA:3162
disease_name: Sézary syndrome
Sézary lymphoma
gene_symbol: NFKBIA
disease_id: ORPHA:98813
disease_name: Hypohidrotic ectodermal dysplasia with immunodeficiency
Anhidrotic ectodermal dysplasia with immunodeficiency
EDA-ID
HED-ID
gene_symbol: SRP54
disease_id: OMIM:618752
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT
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: ALB
disease_id: ORPHA:86816
disease_name: Congenital analbuminemia
gene_symbol: NRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: KRAS
disease_id: OMIM:614470
disease_name: RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
gene_symbol: MUC5B
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: SFTPA2
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERC
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: TERT
disease_id: OMIM:178500
disease_name: PULMONARY FIBROSIS, IDIOPATHIC
gene_symbol: VPS45
disease_id: OMIM:615285
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
gene_symbol: PEPD
disease_id: OMIM:170100
disease_name: PROLIDASE DEFICIENCY
gene_symbol: COL1A1
disease_id: ORPHA:1310
disease_name: Caffey disease
Infantile cortical hyperostosis
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: CD3D
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: CD247
disease_id: ORPHA:169160
disease_name: T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
T-B+ SCID due to CD3delta/CD3epsilon/CD3zeta
gene_symbol: PSMB4
disease_id: OMIM:617591
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3
gene_symbol: DRG1
disease_id: OMIM:620641
disease_name: TAN-ALMURSHEDI SYNDROME
gene_symbol: GBA1
disease_id: ORPHA:77261
disease_name: Gaucher disease type 3
Cerebral juvenile and adult form of Gaucher disease
Chronic neuronopathic Gaucher disease
Gaucher disease, subacute neuronopathic type
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: PSTPIP1
disease_id: ORPHA:69126
disease_name: PAPA syndrome
FRA
Familial recurrent arthritis
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
gene_symbol: SETX
disease_id: OMIM:606002
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2
gene_symbol: PSMB8
disease_id: OMIM:256040
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: UMPS
disease_id: ORPHA:30
disease_name: Hereditary orotic aciduria
Orotidylic decarboxylase deficiency
Uridine monophosphate synthetase deficiency
gene_symbol: UMPS
disease_id: OMIM:258900
disease_name: OROTIC ACIDURIA
gene_symbol: TBX1
disease_id: OMIM:188400
disease_name: DIGEORGE SYNDROME
gene_symbol: TBX1
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: TBX1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: TNFRSF13C
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOS
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: CD19
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: TNFRSF13B
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: CR2
disease_id: OMIM:240500
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 2
gene_symbol: SLC39A4
disease_id: OMIM:201100
disease_name: ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE
gene_symbol: AK2
disease_id: OMIM:267500
disease_name: RETICULAR DYSGENESIS
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: GATA3
disease_id: ORPHA:2237
disease_name: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Barakat syndrome
HDR syndrome
Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
gene_symbol: DGCR8
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR6
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: ESS2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: DGCR2
disease_id: OMIM:192430
disease_name: VELOCARDIOFACIAL SYNDROME
gene_symbol: COMT
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: JMJD1C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: GP1BB
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: RREB1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: HIRA
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: SEC24C
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: UFD1
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: ARVCF
disease_id: ORPHA:567
disease_name: 22q11.2 deletion syndrome
22q11DS
CATCH 22
Cayler cardiofacial syndrome
Conotruncal anomaly face syndrome
DiGeorge sequence
DiGeorge syndrome
Microdeletion 22q11.2
Monosomy 22q11
Sedlackova syndrome
Shprintzen syndrome
Takao syndrome
Velocardiofacial syndrome
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: RAC2
disease_id: ORPHA:183707
disease_name: Infantile LAD-like disease due to RAC2 deficiency
Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency
gene_symbol: CEBPE
disease_id: OMIM:245480
disease_name: SPECIFIC GRANULE DEFICIENCY 1
gene_symbol: GPI
disease_id: OMIM:613470
disease_name: HEMOLYTIC ANEMIA, NONSPHEROCYTIC, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY
gene_symbol: PIK3CD
disease_id: OMIM:619281
disease_name: IMMUNODEFICIENCY 14B, AUTOSOMAL RECESSIVE
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: PRF1
disease_id: OMIM:603553
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
gene_symbol: STX11
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: UNC13D
disease_id: OMIM:608898
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3
gene_symbol: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: STXBP2
disease_id: OMIM:613101
disease_name: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5
gene_symbol: NLRC4
disease_id: OMIM:616050
disease_name: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: IL2RG
disease_id: OMIM:300400
disease_name: SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
gene_symbol: WIPF1
disease_id: OMIM:614493
disease_name: WISKOTT-ALDRICH SYNDROME 2
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: FCGR3A
disease_id: OMIM:615707
disease_name: IMMUNODEFICIENCY 20
gene_symbol: IKBKG
disease_id: OMIM:300291
disease_name: ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: AP3B1
disease_id: OMIM:608233
disease_name: HERMANSKY-PUDLAK SYNDROME 2
gene_symbol: CD81
disease_id: OMIM:613496
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 6
gene_symbol: FAS
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: FASLG
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: CASP10
disease_id: ORPHA:3261
disease_name: Autoimmune lymphoproliferative syndrome
ALPS
Canale-Smith syndrome
gene_symbol: LIG4
disease_id: OMIM:254500
disease_name: MYELOMA, MULTIPLE
gene_symbol: DEF6
disease_id: OMIM:619573
disease_name: IMMUNODEFICIENCY 87 AND AUTOIMMUNITY
gene_symbol: LAT
disease_id: OMIM:617514
disease_name: IMMUNODEFICIENCY 52
gene_symbol: MRTFA
disease_id: OMIM:618847
disease_name: IMMUNODEFICIENCY 66
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
gene_symbol: CD3E
disease_id: OMIM:615615
disease_name: IMMUNODEFICIENCY 18
gene_symbol: LIG1
disease_id: OMIM:619774
disease_name: IMMUNODEFICIENCY 96
gene_symbol: TGFB1
disease_id: OMIM:618213
disease_name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: PSMB10
disease_id: OMIM:620807
disease_name: OMIM:620807
gene_symbol: ZAP70
disease_id: ORPHA:911
disease_name: Combined immunodeficiency due to ZAP70 deficiency
Zeta-associated-protein 70 deficiency
gene_symbol: MALT1
disease_id: OMIM:615468
disease_name: IMMUNODEFICIENCY 12
gene_symbol: STAT1
disease_id: OMIM:614162
disease_name: IMMUNODEFICIENCY 31C
gene_symbol: MCM10
disease_id: OMIM:619313
disease_name: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY
gene_symbol: SLF2
disease_id: OMIM:620184
disease_name: ATELIS SYNDROME 1
gene_symbol: DOCK2
disease_id: OMIM:616433
disease_name: IMMUNODEFICIENCY 40
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: RNF31
disease_id: OMIM:620632
disease_name: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION
gene_symbol: SMARCAL1
disease_id: ORPHA:1830
disease_name: Schimke immuno-osseous dysplasia
Schimke syndrome
Spondyloepiphyseal dysplasia-nephrotic syndrome
gene_symbol: IL17RA
disease_id: OMIM:613953
disease_name: IMMUNODEFICIENCY 51
gene_symbol: LMNA
disease_id: ORPHA:300751
disease_name: Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
gene_symbol: FOXN1
disease_id: ORPHA:83471
disease_name: T-cell immunodeficiency with thymic aplasia
Isolated aplasia/hypoplasia of the thymus
Isolated congenital athymia
Isolated congenital thymic aplasia/hypoplasia
Isolated thymic defect due to thymic aplasia/hypoplasia
Nezelof syndrome
gene_symbol: MS4A1
disease_id: OMIM:613495
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 5
gene_symbol: PMM2
disease_id: ORPHA:79318
disease_name: PMM2-CDG
CDG syndrome type Ia
CDG-Ia
CDG1A
Carbohydrate deficient glycoprotein syndrome type Ia
Congenital disorder of glycosylation type 1a
Congenital disorder of glycosylation type Ia
Phosphomannomutase 2 deficiency
gene_symbol: DNAJC21
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: EFL1
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: SBDS
disease_id: ORPHA:811
disease_name: Shwachman-Diamond syndrome
Pancreatic insufficiency and bone marrow dysfunction
SDS
Shwachman syndrome
Shwachman-Bodian-Diamond syndrome
gene_symbol: CD3G
disease_id: OMIM:615607
disease_name: IMMUNODEFICIENCY 17
gene_symbol: B2M
disease_id: OMIM:241600
disease_name: IMMUNODEFICIENCY 43
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
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: STAT2
disease_id: OMIM:616636
disease_name: IMMUNODEFICIENCY 44
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: CORO1A
disease_id: OMIM:615401
disease_name: IMMUNODEFICIENCY 8
gene_symbol: SHARPIN
disease_id: OMIM:620795
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION
gene_symbol: IGKC
disease_id: OMIM:614102
disease_name: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY