Phenotype: Abnormal bone marrow cell morphology (HP:0005561)
Associated genes and diseases:
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: CBL
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: RUNX1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: SRSF2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TNFRSF4
disease_id: OMIM:615593
disease_name: IMMUNODEFICIENCY 16
gene_symbol: XIAP
disease_id: OMIM:300635
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 2
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: ORPHA:538934
disease_name: X-linked lymphoproliferative disease due to XIAP deficiency
X-linked lymphoproliferative syndrome type 2
XIAP deficiency syndrome
XLP2
gene_symbol: TCIRG1
disease_id: OMIM:259700
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1
gene_symbol: RAC2
disease_id: OMIM:618986
disease_name: IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA
gene_symbol: TCN2
disease_id: OMIM:275350
disease_name: TRANSCOBALAMIN II DEFICIENCY
gene_symbol: TCN2
disease_id: ORPHA:859
disease_name: Transcobalamin deficiency
Inherited deficiency of transcobalamin
Transcobalamin II deficiency
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: SLC46A1
disease_id: ORPHA:90045
disease_name: Hereditary folate malabsorption
Congenital folate malabsorption
gene_symbol: MAN2B1
disease_id: ORPHA:309282
disease_name: Alpha-mannosidosis, infantile form
Lysosomal alpha-D-mannosidase deficiency, infantile form
gene_symbol: MAN2B1
disease_id: ORPHA:309288
disease_name: Alpha-mannosidosis, adult form
Lysosomal alpha-D-mannosidase deficiency, adult form
gene_symbol: NLRC4
disease_id: OMIM:616050
disease_name: AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS
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: SRP54
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
gene_symbol: SBDS
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
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: SBDS
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: DNAJC21
disease_id: OMIM:260400
disease_name: SHWACHMAN-DIAMOND SYNDROME 1
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: DNAJC21
disease_id: OMIM:617052
disease_name: BONE MARROW FAILURE SYNDROME 3
gene_symbol: FANCF
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCC
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: FANCE
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCE
disease_id: OMIM:600901
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP E
gene_symbol: FANCA
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCB
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: SRP72
disease_id: OMIM:614675
disease_name: BONE MARROW FAILURE SYNDROME 1
gene_symbol: MTRR
disease_id: ORPHA:2169
disease_name: Methylcobalamin deficiency type cblE
Functional methionine synthase deficiency type cblE
gene_symbol: LMBRD1
disease_id: OMIM:277380
disease_name: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE
gene_symbol: NHP2
disease_id: OMIM:613987
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2
gene_symbol: NHP2
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
gene_symbol: WRAP53
disease_id: OMIM:613988
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 3
gene_symbol: TERT
disease_id: OMIM:613989
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2
gene_symbol: TERT
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TERT
disease_id: OMIM:614742
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
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: TNFRSF9
disease_id: OMIM:620282
disease_name: IMMUNODEFICIENCY 109 WITH LYMPHOPROLIFERATION
gene_symbol: CUBN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: AMN
disease_id: ORPHA:35858
disease_name: Imerslund-Gräsbeck syndrome
Familial megaloblastic anemia
Selective cobalamin malabsorption with proteinuria
gene_symbol: SAMD9L
disease_id: OMIM:159550
disease_name: ATAXIA-PANCYTOPENIA SYNDROME
gene_symbol: SAMD9L
disease_id: ORPHA:2585
disease_name: Ataxia-pancytopenia syndrome
Myelocerebellar disorder
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: IFNG
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: IFNG
disease_id: OMIM:618963
disease_name: IMMUNODEFICIENCY 69
gene_symbol: TERC
disease_id: ORPHA:88
disease_name: Idiopathic aplastic anemia
Idiopathic bone marrow failure
gene_symbol: TERC
disease_id: OMIM:614743
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 2
gene_symbol: COQ2
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: APTX
disease_id: OMIM:607426
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 1
gene_symbol: TINF2
disease_id: OMIM:613990
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 3
gene_symbol: DNASE2
disease_id: OMIM:619858
disease_name: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: DUT
disease_id: OMIM:620044
disease_name: BONE MARROW FAILURE AND DIABETES MELLITUS SYNDROME
gene_symbol: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
gene_symbol: PCCA
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: PCCB
disease_id: OMIM:606054
disease_name: PROPIONIC ACIDEMIA
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: IVD
disease_id: OMIM:243500
disease_name: ISOVALERIC ACIDEMIA
gene_symbol: COG6
disease_id: OMIM:614576
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl
gene_symbol: ATR
disease_id: OMIM:210600
disease_name: SECKEL SYNDROME 1
gene_symbol: IKZF1
disease_id: OMIM:616873
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 13
gene_symbol: GBA1
disease_id: OMIM:231005
disease_name: GAUCHER DISEASE, TYPE IIIC
gene_symbol: GBA1
disease_id: OMIM:231000
disease_name: GAUCHER DISEASE, TYPE III
gene_symbol: GBA1
disease_id: ORPHA:85212
disease_name: Fetal Gaucher disease
Perinatal lethal Gaucher disease
gene_symbol: GBA1
disease_id: OMIM:230800
disease_name: GAUCHER DISEASE, TYPE I
gene_symbol: GBA1
disease_id: ORPHA:2072
disease_name: Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Cardiovascular Gaucher disease
Gaucher disease type 3C
Gaucher-like disease
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: DPP9
disease_id: OMIM:620331
disease_name: HATIPOGLU IMMUNODEFICIENCY SYNDROME
gene_symbol: ALPK1
disease_id: OMIM:614979
disease_name: RETINAL DYSTROPHY, OPTIC NERVE EDEMA, SPLENOMEGALY, ANHIDROSIS, AND MIGRAINE HEADACHE SYNDROME
gene_symbol: MMAB
disease_id: OMIM:251110
disease_name: METHYLMALONIC ACIDURIA, cblB TYPE
gene_symbol: RAB27A
disease_id: ORPHA:79477
disease_name: Griscelli syndrome type 2
Griscelli-Pruniéras syndrome type 2
Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome
gene_symbol: CA2
disease_id: ORPHA:2785
disease_name: Osteopetrosis with renal tubular acidosis
Carbonic anhydrase 2 deficiency
Guibaud-Vainsel syndrome
Marble brain disease
Mixed RTA
Mixed renal tubular acidosis
Renal tubular acidosis type 3
gene_symbol: ACP5
disease_id: ORPHA:1855
disease_name: Spondyloenchondrodysplasia
SPENCD
Spondyloenchondromatosis
Spondylometaphyseal dysplasia with enchondromatous changes
gene_symbol: PSTPIP1
disease_id: OMIM:604416
disease_name: PYOGENIC STERILE ARTHRITIS, PYODERMA GANGRENOSUM, AND ACNE
gene_symbol: ITK
disease_id: OMIM:613011
disease_name: LYMPHOPROLIFERATIVE SYNDROME 1
gene_symbol: NOP10
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: FARSB
disease_id: OMIM:613658
disease_name: RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 1
gene_symbol: MMAA
disease_id: OMIM:251100
disease_name: METHYLMALONIC ACIDURIA, cblA TYPE
gene_symbol: HAVCR2
disease_id: OMIM:618398
disease_name: T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
gene_symbol: STN1
disease_id: OMIM:617341
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2
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: ZNF699
disease_id: OMIM:619488
disease_name: DEGCAGS SYNDROME
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: ITCH
disease_id: ORPHA:228426
disease_name: Syndromic multisystem autoimmune disease due to Itch deficiency
gene_symbol: PTPRC
disease_id: OMIM:619924
disease_name: IMMUNODEFICIENCY 105
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: IFIH1
disease_id: OMIM:615846
disease_name: AICARDI-GOUTIERES SYNDROME 7
gene_symbol: RPA1
disease_id: OMIM:619767
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6
gene_symbol: SMARCAL1
disease_id: OMIM:242900
disease_name: SCHIMKE IMMUNOOSSEOUS DYSPLASIA
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: NAXD
disease_id: OMIM:618321
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2
gene_symbol: MRPS7
disease_id: OMIM:617872
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34
gene_symbol: SLX4
disease_id: OMIM:613951
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP P
gene_symbol: DHFR
disease_id: OMIM:613839
disease_name: MEGALOBLASTIC ANEMIA DUE TO DIHYDROFOLATE REDUCTASE DEFICIENCY
gene_symbol: THPO
disease_id: OMIM:620481
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
gene_symbol: STAT3
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: PML
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: IRF2BP2
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: FIP1L1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NPM1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: PRKAR1A
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: BCOR
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NABP1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: STAT5B
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: NUMA1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: ZBTB16
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: TBL1XR1
disease_id: ORPHA:520
disease_name: Acute promyelocytic leukemia
AML M3
AML with t(15;17)(q22;q12);(PML/RARalpha) and variants
APML
Acute myeloblastic leukemia 3
Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants
gene_symbol: ACD
disease_id: OMIM:616553
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6
gene_symbol: UBE2T
disease_id: OMIM:616435
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP T
gene_symbol: RNASEH2A
disease_id: OMIM:610333
disease_name: AICARDI-GOUTIERES SYNDROME 4
gene_symbol: RAP1B
disease_id: OMIM:620654
disease_name: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES
gene_symbol: TCF3
disease_id: OMIM:619824
disease_name: AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE
gene_symbol: SARS2
disease_id: OMIM:613845
disease_name: HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS SYNDROME
gene_symbol: DCLRE1B
disease_id: OMIM:620133
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 8
gene_symbol: TALDO1
disease_id: OMIM:606003
disease_name: TRANSALDOLASE DEFICIENCY
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
gene_symbol: SRP19
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: ELANE
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: GFI1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: PALB2
disease_id: OMIM:610832
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP N
gene_symbol: ANAPC1
disease_id: ORPHA:221008
disease_name: Rothmund-Thomson syndrome type 1
Poikiloderma of Rothmund-Thomson type 1
RTS1
gene_symbol: MMADHC
disease_id: ORPHA:79283
disease_name: Methylmalonic acidemia with homocystinuria, type cblD
CblD defect
Cobalamin D defect
Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD
Methylmalonic aciduria with homocystinuria, type cblD
gene_symbol: ERBB3
disease_id: OMIM:133180
disease_name: ERYTHROLEUKEMIA, FAMILIAL, SUSCEPTIBILITY TO
gene_symbol: HSCB
disease_id: OMIM:619523
disease_name: ANEMIA, SIDEROBLASTIC, 5
gene_symbol: HSPA9
disease_id: OMIM:182170
disease_name: ANEMIA, SIDEROBLASTIC, 4
gene_symbol: GNE
disease_id: OMIM:620757
disease_name: THROMBOCYTOPENIA 12 WITH OR WITHOUT MYOPATHY
gene_symbol: ADH5
disease_id: OMIM:619151
disease_name: AMED SYNDROME, DIGENIC
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: RTEL1
disease_id: OMIM:615190
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
gene_symbol: RTEL1
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: RTEL1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: ERCC4
disease_id: OMIM:615272
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP Q
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: RPL26
disease_id: OMIM:614900
disease_name: DIAMOND-BLACKFAN ANEMIA 11
gene_symbol: TBXAS1
disease_id: OMIM:231095
disease_name: GHOSAL HEMATODIAPHYSEAL DYSPLASIA
gene_symbol: TBXAS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ERCC6L2
disease_id: OMIM:615715
disease_name: BONE MARROW FAILURE SYNDROME 2
gene_symbol: ZCCHC8
disease_id: OMIM:618674
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5
gene_symbol: FANCI
disease_id: OMIM:609053
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP I
gene_symbol: BRIP1
disease_id: OMIM:609054
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP J
gene_symbol: VPS33A
disease_id: OMIM:617303
disease_name: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME
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: VPS33A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDCD1
disease_id: OMIM:621004
disease_name: OMIM:621004
gene_symbol: NBN
disease_id: OMIM:609135
disease_name: APLASTIC ANEMIA
gene_symbol: BRCA2
disease_id: OMIM:605724
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D1
gene_symbol: LBR
disease_id: OMIM:215140
disease_name: GREENBERG DYSPLASIA
gene_symbol: LBR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FANCL
disease_id: OMIM:614083
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP L
gene_symbol: NSD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBCE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MATN3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCN6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHOX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDKN1C
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBM8A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ROR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PIGV
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALG3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHSY1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTDSS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC34A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTPN11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ABCC9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT80
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC26A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC25A24
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HDAC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FERMT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCTN2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IKBKG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC10A7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HOXD13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPPC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BTRC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DONSON
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NFIX
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ZC4H2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SRCAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GSC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCNQ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DSE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MKS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EOGT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INPPL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CUL7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRPS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MTAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PKDCC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR35
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SHH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FUCA1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPAT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FIG4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TAPT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FLNB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPM1D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCOF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SP7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CILK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBPJ
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TTI2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOTCH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MESP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PDE3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NKX3-2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TNFRSF11A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRIP11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IKBKB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNLT2B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMAD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SETD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AMER1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOST
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP290
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LFNG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM67
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR19
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WDR19
disease_id: OMIM:614378
disease_name: CRANIOECTODERMAL DYSPLASIA 4
gene_symbol: TGFBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EZH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL2RG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NIPBL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HYLS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CSF1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIAA0586
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPNAT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: AIFM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT43
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPRED1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2H1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CREB3L1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRPV6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DPM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MYO18B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: INTU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OTX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPARC
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SEC24D
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NAGLU
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LRP4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SEMA3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACVR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP2R1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MEGF8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFITM5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC134
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ANO5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NSDHL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC73
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAFB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: OBSL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ENPP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TENT5A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBXW4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PSMB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CANT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM216
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RSPO2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HMGA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT10B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PPP1R21
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COMP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TWIST1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNX10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNA2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF23
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BGN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IARS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EFTUD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT5A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HSPG2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POU1F1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NBAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: COL9A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PTH1R
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VPS35L
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CC2D2A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CFAP410
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P4HB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM20B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NOG
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXOC6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CCDC8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EDN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLOD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARCN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: P3H1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SCARF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARID1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGF2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ARSL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PNPLA6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NANS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RREB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GLI3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ERF
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOS1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLAG1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLEKHM1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SKI
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CTSK
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC39A13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LAMA5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IFT140
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP3K7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ECEL1
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disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FMN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: H19
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: VAC14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CRTAP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PAPSS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SNRPB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC17A5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MSX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGF9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ID4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BTK
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GUSB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MGP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GORAB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ACAN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FBLN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PEX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC35C1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP2K1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HS2ST1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CPLANE1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SGSH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM38B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NIN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GJA1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CHST3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLK4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RMRP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC45
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPR161
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BHLHA9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPC3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SERPINF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HDAC4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MESD
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ALG12
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ORC1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PROKR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYNC2I2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BPNT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CASR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RBBP8
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLL
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ORC6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LRRK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EIF2AK3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SALL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCB1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGFALS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TYROBP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GHSR
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFBR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC42
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDH2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIF22
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DMP1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MAP3K20
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HES7
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SOX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TCTN3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SERPINH1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SMARCE1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GNPTAB
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMPR1B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HGSNAT
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MYL11
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FKBP14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RRAS2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP152
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPRED2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP13
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DVL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NPR3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: HESX1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FKBP10
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DDRGK1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RSPRY1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TGFB3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PCYT1A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RECQL4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP14
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FAM111A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLX6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TBX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LTBP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: ATP6V0A2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TMEM165
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RIGI
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LYSET
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NADSYN1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAIP
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TTC21B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CEP63
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DVL1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR3B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LHX3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMBR1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GCM2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMPER
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GPX4
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LMNA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: LTBP3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL6ST
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RAB33B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SPINK5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NLRP3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DLL3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IGF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DOCK6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MCM5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MMP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: SLC29A3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PLS3
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NEK9
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KIAA0753
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NSD2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BRAF
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP26B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RRAS
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: KAT6B
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BMP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: BRF1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CDC6
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: RASGRP2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLE
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GDF5
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: EXT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: NXN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: GALNT2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TP63
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: CYP27B1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DNMT3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: POLR3A
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: WNT1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: PHGDH
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: TRAPPC2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: DYM
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGFR2
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: FGD1
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IDUA
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: IL1RN
disease_id: OMIM:131300
disease_name: CAMURATI-ENGELMANN DISEASE
gene_symbol: MDM4
disease_id: OMIM:618849
disease_name: BONE MARROW FAILURE SYNDROME 6
gene_symbol: PARN
disease_id: ORPHA:3322
disease_name: Hoyeraal-Hreidarsson syndrome
Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome
gene_symbol: PARN
disease_id: OMIM:616353
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6
gene_symbol: PARN
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TLR8
disease_id: OMIM:301078
disease_name: IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED
gene_symbol: RAD51
disease_id: OMIM:617244
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP R
gene_symbol: MAD2L2
disease_id: OMIM:617243
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP V
gene_symbol: CTC1
disease_id: OMIM:612199
disease_name: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 1
gene_symbol: CTC1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: USB1
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: TYMS
disease_id: ORPHA:1775
disease_name: Dyskeratosis congenita
DC
DKC
Zinsser-Engman-Cole syndrome
gene_symbol: FLI1
disease_id: ORPHA:2308
disease_name: Jacobsen syndrome
11q terminal deletion syndrome
Chromosome 11q deletion syndrome
Del(11)(q23.3)
Del(11)(qter)
Distal deletion 11q
Distal monosomy 11q
Monosomy 11qter
Telomeric deletion 11q
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: GNA14
disease_id: ORPHA:1063
disease_name: Tufted angioma
Nakagawa angioblastoma
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: HOXA11
disease_id: OMIM:605432
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
gene_symbol: KIF15
disease_id: OMIM:619981
disease_name: BRADDOCK-CAREY SYNDROME 2
gene_symbol: LPIN2
disease_id: ORPHA:77297
disease_name: Majeed syndrome
Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome
gene_symbol: CCND1
disease_id: ORPHA:52416
disease_name: Mantle cell lymphoma
LCM
MCL
Mantle zone lymphoma
gene_symbol: ATM
disease_id: ORPHA:52416
disease_name: Mantle cell lymphoma
LCM
MCL
Mantle zone lymphoma
gene_symbol: IGH
disease_id: ORPHA:52416
disease_name: Mantle cell lymphoma
LCM
MCL
Mantle zone lymphoma
gene_symbol: CXCR4
disease_id: OMIM:193670
disease_name: WHIM SYNDROME
gene_symbol: CALR
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: CALR
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: MPL
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: MPL
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: JAK2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: JAK2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TET2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: TET2
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: XRCC4
disease_id: ORPHA:99812
disease_name: LIG4 syndrome
DNA ligase IV deficiency
Ligase 4 syndrome
gene_symbol: LIG4
disease_id: ORPHA:99812
disease_name: LIG4 syndrome
DNA ligase IV deficiency
Ligase 4 syndrome
gene_symbol: HPGD
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: SLCO2A1
disease_id: ORPHA:2796
disease_name: Pachydermoperiostosis
PDP
Touraine-Solente-Gole syndrome
gene_symbol: MYC
disease_id: ORPHA:543
disease_name: Burkitt lymphoma
Small non-cleaved cell lymphoma
gene_symbol: PRKACA
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PRKACB
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: GLI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: DYNC2LI1
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: EVC2
disease_id: ORPHA:289
disease_name: Ellis Van Creveld syndrome
Chondroectodermal dysplasia
Mesodermic dysplasia
gene_symbol: PIGM
disease_id: OMIM:610293
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
gene_symbol: SH2B3
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: TP53
disease_id: ORPHA:3318
disease_name: Essential thrombocythemia
ET
Essential thrombocytosis
gene_symbol: CTLA4
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: CD28
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: TNFRSF1B
disease_id: ORPHA:2584
disease_name: Classic mycosis fungoides
Mycosis fungoides, Alibert-Bazin type
gene_symbol: MPIG6B
disease_id: OMIM:617441
disease_name: THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS
gene_symbol: SRC
disease_id: OMIM:616937
disease_name: THROMBOCYTOPENIA 6
gene_symbol: GFI1B
disease_id: OMIM:187900
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 17
gene_symbol: NBEAL2
disease_id: OMIM:139090
disease_name: GRAY PLATELET SYNDROME
gene_symbol: RPS14
disease_id: ORPHA:86841
disease_name: Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
5q- syndrome
gene_symbol: KIF23
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: RACGAP1
disease_id: ORPHA:98870
disease_name: Congenital dyserythropoietic anemia type III
CDA III
CDA type 3
CDA type III
Congenital dyserythropoietic anemia type 3
gene_symbol: RARA
disease_id: OMIM:612376
disease_name: ACUTE PROMYELOCYTIC LEUKEMIA
gene_symbol: GATA1
disease_id: OMIM:300835
disease_name: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES
gene_symbol: SRP68
disease_id: OMIM:620534
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 10, AUTOSOMAL RECESSIVE
gene_symbol: IRF8
disease_id: OMIM:226990
disease_name: IMMUNODEFICIENCY 32B
gene_symbol: RPL18
disease_id: OMIM:618310
disease_name: DIAMOND-BLACKFAN ANEMIA 18
gene_symbol: FYB1
disease_id: OMIM:273900
disease_name: THROMBOCYTOPENIA 3
gene_symbol: SLC35A1
disease_id: ORPHA:238459
disease_name: SLC35A1-CDG
CDG syndrome type IIf
CDG-IIf
CDG2F
CMP-sialic acid transporter deficiency
Carbohydrate deficient glycoprotein syndrome type IIf
Congenital disorder of glycosylation type 2f
Congenital disorder of glycosylation type IIf
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: SF3B1
disease_id: ORPHA:75564
disease_name: Acquired idiopathic sideroblastic anemia
AISA
Primary acquired sideroblastic anemia
RARS
Refractory anemia with ringed sideroblasts
gene_symbol: LYST
disease_id: ORPHA:167
disease_name: Chédiak-Higashi syndrome
Chédiak-Higashi disease
Chédiak-Higashi-Steinbrink syndrome
gene_symbol: PRF1
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
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: STXBP2
disease_id: ORPHA:540
disease_name: Familial hemophagocytic lymphohistiocytosis
Familial HLH
gene_symbol: CLCN7
disease_id: ORPHA:53
disease_name: Albers-Schönberg osteopetrosis
Osteopetrosis autosomal dominant type 2
gene_symbol: KIT
disease_id: ORPHA:98849
disease_name: Systemic mastocytosis with associated hematologic neoplasm
SM-AHN
SM-AHNMD
Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease
gene_symbol: CXCR2
disease_id: OMIM:619407
disease_name: WHIM SYNDROME 2
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: GALE
disease_id: OMIM:620776
disease_name: THROMBOCYTOPENIA 13, SYNDROMIC
gene_symbol: GATA2
disease_id: OMIM:614172
disease_name: IMMUNODEFICIENCY 21
gene_symbol: MYSM1
disease_id: ORPHA:508542
disease_name: Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
MYSM1 deficiency
gene_symbol: UBA1
disease_id: OMIM:301054
disease_name: VEXAS SYNDROME
gene_symbol: SLC19A1
disease_id: OMIM:601775
disease_name: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE
gene_symbol: SLC30A7
disease_id: OMIM:620501
disease_name: ZIEGLER-HUANG SYNDROME
gene_symbol: DDX41
disease_id: OMIM:616871
disease_name: MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO
gene_symbol: SAMD9
disease_id: OMIM:619041
disease_name: MONOSOMY 7 MYELODYSPLASIA AND LEUKEMIA SYNDROME 2
gene_symbol: MYH9
disease_id: OMIM:155100
disease_name: MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS
gene_symbol: RFWD3
disease_id: OMIM:617784
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP W
gene_symbol: SEC61A1
disease_id: OMIM:620674
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 11, AUTOSOMAL DOMINANT
gene_symbol: FLNA
disease_id: OMIM:300049
disease_name: PERIVENTRICULAR NODULAR HETEROTOPIA 1
gene_symbol: CLPB
disease_id: OMIM:616271
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII
gene_symbol: CSF3R
disease_id: OMIM:617014
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 7, AUTOSOMAL RECESSIVE
gene_symbol: SMARCD2
disease_id: OMIM:617475
disease_name: SPECIFIC GRANULE DEFICIENCY 2
gene_symbol: JAGN1
disease_id: OMIM:616022
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE
gene_symbol: WAS
disease_id: OMIM:300299
disease_name: NEUTROPENIA, SEVERE CONGENITAL, X-LINKED
gene_symbol: ANKRD26
disease_id: OMIM:188000
disease_name: THROMBOCYTOPENIA 2
gene_symbol: CDIN1
disease_id: OMIM:615631
disease_name: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE Ib
gene_symbol: ABCB7
disease_id: ORPHA:2802
disease_name: X-linked sideroblastic anemia and spinocerebellar ataxia
Pagon-Bird-Detter syndrome
X-linked sideroblastic anemia with ataxia
XLSA-A
gene_symbol: CARD11
disease_id: OMIM:616452
disease_name: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY
gene_symbol: CTNS
disease_id: OMIM:219800
disease_name: CYSTINOSIS, NEPHROPATHIC