TaoMedAI/RareMedData huggingface dataset:
Phenotype: Abnormality of the cochlear nerve (HP:0011396)
Associated genes and diseases:
gene_symbol: AHDC1
disease_id: OMIM:615829
disease_name: XIA-GIBBS SYNDROME
gene_symbol: USP48
disease_id: OMIM:620227
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 85
gene_symbol: AIFM1
disease_id: OMIM:300614
disease_name: DEAFNESS, X-LINKED 5, WITH PERIPHERAL NEUROPATHY
gene_symbol: GREB1L
disease_id: OMIM:619274
disease_name: DEAFNESS, AUTOSOMAL DOMINANT 80
Phenotype: Abnormality of the dorsal column of the spinal cord (HP:0011397)
Associated genes and diseases:
gene_symbol: SETX
disease_id: OMIM:602433
disease_name: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
gene_symbol: ATXN1
disease_id: OMIM:164400
disease_name: SPINOCEREBELLAR ATAXIA 1
gene_symbol: ABCD1
disease_id: ORPHA:139399
disease_name: Adrenomyeloneuropathy
gene_symbol: FXN
disease_id: OMIM:601992
disease_name: FRIEDREICH ATAXIA 2
gene_symbol: DARS2
disease_id: ORPHA:137898
disease_name: Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
LBSL
Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome
gene_symbol: ALDH18A1
disease_id: ORPHA:447753
disease_name: Autosomal dominant spastic paraplegia type 9A
AD-SPG9A
Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
Phenotype: Tibialis anterior muscle atrophy (HP:0011399)
Associated genes and diseases:
gene_symbol: DYSF
disease_id: ORPHA:45448
disease_name: Miyoshi myopathy
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
gene_symbol: TTN
disease_id: OMIM:600334
disease_name: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
gene_symbol: MTRFR
disease_id: OMIM:615035
disease_name: SPASTIC PARAPLEGIA 55, AUTOSOMAL RECESSIVE
gene_symbol: MYH7
disease_id: OMIM:160500
disease_name: MYOPATHY, DISTAL, 1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated genes and diseases:
gene_symbol: HERC1
disease_id: ORPHA:457359
disease_name: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
gene_symbol: CDC42BPB
disease_id: OMIM:619841
disease_name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: RMRP
disease_id: OMIM:250250
disease_name: CARTILAGE-HAIR HYPOPLASIA
gene_symbol: MESD
disease_id: OMIM:618644
disease_name: OSTEOGENESIS IMPERFECTA, TYPE XX
gene_symbol: ANTXR1
disease_id: ORPHA:2067
disease_name: GAPO syndrome
Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome
gene_symbol: CTNNB1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: AMER1
disease_id: ORPHA:2780
disease_name: Osteopathia striata-cranial sclerosis syndrome
Hyperostosis generalisata with striations
Robinow-Unger syndrome
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
gene_symbol: AKT1
disease_id: ORPHA:744
disease_name: Proteus syndrome
Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome
gene_symbol: IGF2
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: KCNQ1OT1
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
gene_symbol: H19
disease_id: ORPHA:2128
disease_name: Isolated hemihyperplasia
Hemi 3 syndrome
Hemicorporal hypertrophy
Isolated hemihypertrophy
Phenotype: Elevated circulating dihydroxyphenylacetic acid concentration (HP:6000234)
Associated genes and diseases:
gene_symbol: DBH
disease_id: OMIM:223360
disease_name: ORTHOSTATIC HYPOTENSION 1
Phenotype: Recurrent thromboembolism (HP:0004831)
Associated genes and diseases:
gene_symbol: HRG
disease_id: OMIM:613116
disease_name: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY
gene_symbol: SERPINC1
disease_id: ORPHA:82
disease_name: Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Phenotype: Acute monocytic leukemia (HP:0004845)
Associated genes and diseases:
gene_symbol: RUNX1
disease_id: OMIM:601399
disease_name: PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
gene_symbol: ELANE
disease_id: OMIM:202700
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
Phenotype: Microspherocytosis (HP:0004835)
Associated genes and diseases:
gene_symbol: SPTA1
disease_id: OMIM:266140
disease_name: PYROPOIKILOCYTOSIS, HEREDITARY
Phenotype: Acute promyelocytic leukemia (HP:0004836)
Associated genes and diseases:
gene_symbol: RARA
disease_id: OMIM:612376
disease_name: ACUTE PROMYELOCYTIC LEUKEMIA
gene_symbol: SMPD1
disease_id: ORPHA:77293
disease_name: Chronic visceral acid sphingomyelinase deficiency
Chronic visceral ASMD
NPD-B
Niemann-Pick disease type B
Phenotype: Fetal polyuria (HP:0001563)
Associated genes and diseases:
gene_symbol: MAGED2
disease_id: OMIM:300971
disease_name: BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: CLCNKA
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: CLCNKB
disease_id: OMIM:613090
disease_name: BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: BSND
disease_id: OMIM:602522
disease_name: BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS
gene_symbol: RET
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: ITGA8
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: FGF20
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GFRA1
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: WNT9B
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: GREB1L
disease_id: ORPHA:1848
disease_name: Renal agenesis, bilateral
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
Phenotype: Elevated circulating tumor necrosis factor alpha concentration (HP:6000239)
Associated genes and diseases:
gene_symbol: PSMB9
disease_id: OMIM:620796
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6
Phenotype: Reduced circulating pyrimidine 5-prime-nucleotidase activity (HP:6000240)
Associated genes and diseases:
gene_symbol: NT5C3A
disease_id: OMIM:266120
disease_name: URIDINE 5-PRIME MONOPHOSPHATE HYDROLASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Phenotype: Prolonged bleeding after surgery (HP:0004846)
Associated genes and diseases:
gene_symbol: F13B
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: F13B
disease_id: OMIM:613235
disease_name: FACTOR XIII, B SUBUNIT, DEFICIENCY OF
gene_symbol: F13A1
disease_id: ORPHA:331
disease_name: Congenital factor XIII deficiency
Fibrin-stabilizing factor deficiency
gene_symbol: SERPINE1
disease_id: ORPHA:465
disease_name: Congenital plasminogen activator inhibitor type 1 deficiency
Congenital PAI-1 deficiency
gene_symbol: F8
disease_id: ORPHA:177926
disease_name: Bleeding disorder in hemophilia A carriers
gene_symbol: F8
disease_id: ORPHA:169805
disease_name: Moderate hemophilia A
Moderate congenital F8 deficiency
Moderate congenital factor VIII deficiency
gene_symbol: F8
disease_id: ORPHA:169802
disease_name: Severe hemophilia A
Severe congenital F8 deficiency
Severe congenital factor VIII deficiency
gene_symbol: GP1BA
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BA
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP1BB
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP1BB
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: GP9
disease_id: ORPHA:274
disease_name: Bernard-Soulier syndrome
Giant platelet syndrome
Hemorrhagiparous thrombocytic dystrophy
gene_symbol: GP9
disease_id: OMIM:231200
disease_name: BERNARD-SOULIER SYNDROME
gene_symbol: F10
disease_id: OMIM:227600
disease_name: FACTOR X DEFICIENCY
gene_symbol: F10
disease_id: ORPHA:328
disease_name: Congenital factor X deficiency
Congenital Stuart factor deficiency
Stuart-Prower factor deficiency
gene_symbol: ITGB3
disease_id: OMIM:619267
disease_name: GLANZMANN THROMBASTHENIA 2
gene_symbol: ITGB3
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: VWF
disease_id: OMIM:193400
disease_name: VON WILLEBRAND DISEASE, TYPE 1
gene_symbol: VWF
disease_id: OMIM:277480
disease_name: VON WILLEBRAND DISEASE, TYPE 3
gene_symbol: LMAN1
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: MCFD2
disease_id: ORPHA:35909
disease_name: Combined deficiency of factor V and factor VIII
F5F8D
FV and FVIII combined deficiency
gene_symbol: ITGA2B
disease_id: ORPHA:849
disease_name: Glanzmann thrombasthenia
gene_symbol: P2RY12
disease_id: OMIM:609821
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 8
gene_symbol: TPM4
disease_id: OMIM:620486
disease_name: BLEEDING DISORDER, PLATELET-TYPE, 25
gene_symbol: F7
disease_id: ORPHA:327
disease_name: Congenital factor VII deficiency
Congenital proconvertin deficiency
Hypoproconvertinemia
gene_symbol: F5
disease_id: ORPHA:326
disease_name: Congenital factor V deficiency
Owren disease
Parahemophilia
Proaccelerin deficiency
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated genes and diseases:
gene_symbol: HBB
disease_id: ORPHA:231222
disease_name: Beta-thalassemia intermedia
gene_symbol: HBB
disease_id: ORPHA:231226
disease_name: Dominant beta-thalassemia
Inclusion body beta-thalassemia
gene_symbol: HBB
disease_id: ORPHA:231214
disease_name: Beta-thalassemia major
Cooley anemia
Mediterranean anemia
gene_symbol: LARS2
disease_id: OMIM:617021
disease_name: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA
gene_symbol: VPS45
disease_id: OMIM:615285
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 5, AUTOSOMAL RECESSIVE
gene_symbol: SH2B3
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: CALR
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: CALR
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: JAK2
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: JAK2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: MPL
disease_id: OMIM:254450
disease_name: MYELOFIBROSIS
gene_symbol: MPL
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: FERMT3
disease_id: OMIM:612840
disease_name: LEUKOCYTE ADHESION DEFICIENCY, TYPE III
gene_symbol: TET2
disease_id: ORPHA:824
disease_name: Primary myelofibrosis
Agnogenic myeloid metaplasia
Idiopathic myelofibrosis
Myelofibrosis with myeloid metaplasia
Osteomyelofibrosis
gene_symbol: FGFR2
disease_id: ORPHA:313855
disease_name: FGFR2-related bent bone dysplasia
Perinatal lethal bent bone dysplasia
gene_symbol: CA2
disease_id: OMIM:259730
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3
gene_symbol: EPB42
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SLC4A1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: TNFSF11
disease_id: OMIM:259710
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2
gene_symbol: AKR1D1
disease_id: ORPHA:79303
disease_name: Congenital bile acid synthesis defect type 2
BASD2
Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
gene_symbol: RBM10
disease_id: ORPHA:2886
disease_name: TARP syndrome
Pierre Robin sequence-congenital heart defect-talipes syndrome
Pierre Robin syndrome-congenital heart defect-talipes syndrome
Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome
gene_symbol: OSTM1
disease_id: OMIM:259720
disease_name: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5
Phenotype: Ph-positive acute lymphoblastic leukemia (HP:0004848)
Associated genes and diseases:
gene_symbol: ABL1
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: BCR
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
Phenotype: Multiple impacted teeth (HP:0001571)
Associated genes and diseases:
gene_symbol: PTH1R
disease_id: OMIM:600002
disease_name: EIKEN SYNDROME
gene_symbol: FLNA
disease_id: OMIM:311300
disease_name: OTOPALATODIGITAL SYNDROME, TYPE I
gene_symbol: SH3BP2
disease_id: OMIM:118400
disease_name: CHERUBISM
gene_symbol: CDH11
disease_id: OMIM:211380
disease_name: ELSAHY-WATERS SYNDROME
gene_symbol: HOXD13
disease_id: OMIM:113300
disease_name: BRACHYDACTYLY, TYPE E1
Phenotype: Primary hypercortisolism (HP:0001579)
Associated genes and diseases:
gene_symbol: PRKACA
disease_id: OMIM:615830
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 4
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: GNAS
disease_id: OMIM:219080
disease_name: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA
gene_symbol: MEN1
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN1A
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2B
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: CDKN2C
disease_id: ORPHA:652
disease_name: Multiple endocrine neoplasia type 1
MEN1
Wermer syndrome
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: PRKAR1A
disease_id: OMIM:610489
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
Phenotype: Elevated CSF D-2-hydroxyglutaric acid concentration (HP:6000246)
Associated genes and diseases:
gene_symbol: D2HGDH
disease_id: OMIM:600721
disease_name: D-2-HYDROXYGLUTARIC ACIDURIA 1
gene_symbol: SLC25A1
disease_id: OMIM:615182
disease_name: COMBINED D-2- AND L-2-HYDROXYGLUTARIC ACIDURIA
Phenotype: Reduced circulating cortisol-binding globulin concentration (HP:6000243)
Associated genes and diseases:
gene_symbol: SERPINA6
disease_id: OMIM:611489
disease_name: CORTICOSTEROID-BINDING GLOBULIN DEFICIENCY
Phenotype: Decreased circulating thyroglobulin concentration (HP:6000244)
Associated genes and diseases:
gene_symbol: FOXE1
disease_id: OMIM:241850
disease_name: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE
Phenotype: Reduced HMG-CoA lyase activity in cultured fibroblasts (HP:6000216)
Associated genes and diseases:
gene_symbol: HMGCL
disease_id: OMIM:246450
disease_name: 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY
Phenotype: Reduced circulating acyl-CoA oxidase activity (HP:6000217)
Associated genes and diseases:
gene_symbol: ACOX1
disease_id: OMIM:264470
disease_name: PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY
Phenotype: Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity (HP:6000215)
Associated genes and diseases:
gene_symbol: HIBCH
disease_id: OMIM:250620
disease_name: 3-HYDROXYISOBUTYRYL-CoA HYDROLASE DEFICIENCY
Phenotype: Reduced circulating xanthine oxidase activity (HP:6000218)
Associated genes and diseases:
gene_symbol: XDH
disease_id: OMIM:278300
disease_name: XANTHINURIA, TYPE I
Phenotype: Recurrent deep vein thrombosis (HP:0004850)
Associated genes and diseases:
gene_symbol: SERPIND1
disease_id: OMIM:612356
disease_name: HEPARIN COFACTOR II DEFICIENCY
gene_symbol: PROC
disease_id: OMIM:612304
disease_name: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE
Phenotype: Folate-responsive megaloblastic anemia (HP:0004851)
Associated genes and diseases:
gene_symbol: SLC46A1
disease_id: OMIM:229050
disease_name: FOLATE MALABSORPTION, HEREDITARY
gene_symbol: SLC19A1
disease_id: OMIM:601775
disease_name: MEGALOBLASTIC ANEMIA, FOLATE-RESPONSIVE
Phenotype: Reduced leukocyte alkaline phosphatase (HP:0004852)
Associated genes and diseases:
gene_symbol: ABL1
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
gene_symbol: BCR
disease_id: OMIM:608232
disease_name: LEUKEMIA, CHRONIC MYELOID
Phenotype: Intermittent thrombocytopenia (HP:0004854)
Associated genes and diseases:
gene_symbol: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: WAS
disease_id: OMIM:313900
disease_name: THROMBOCYTOPENIA 1
gene_symbol: WDR1
disease_id: OMIM:150550
disease_name: PERIODIC FEVER, IMMUNODEFICIENCY, AND THROMBOCYTOPENIA SYNDROME
gene_symbol: TFRC
disease_id: OMIM:616740
disease_name: IMMUNODEFICIENCY 46
gene_symbol: GP1BA
disease_id: OMIM:177820
disease_name: PSEUDO-VON WILLEBRAND DISEASE
Phenotype: Reduced protein S activity (HP:0004855)
Associated genes and diseases:
gene_symbol: MPI
disease_id: ORPHA:79319
disease_name: MPI-CDG
CDG syndrome type Ib
CDG-Ib
CDG1B
Carbohydrate deficient glycoprotein syndrome type Ib
Congenital disorder of glycosylation type 1b
Congenital disorder of glycosylation type Ib
Phosphomannose isomerase deficiency
gene_symbol: DPAGT1
disease_id: ORPHA:86309
disease_name: DPAGT1-CDG
CDG syndrome type Ij
CDG-Ij
CDG1J
Carbohydrate deficient glycoprotein syndrome type Ij
Congenital disorder of glycosylation type 1j
Congenital disorder of glycosylation type Ij
Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency
gene_symbol: DPM1
disease_id: OMIM:608799
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: COG8
disease_id: OMIM:611182
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh
gene_symbol: GGCX
disease_id: OMIM:277450
disease_name: VITAMIN K-DEPENDENT CLOTTING FACTORS, COMBINED DEFICIENCY OF, 1
gene_symbol: PROS1
disease_id: OMIM:614514
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
gene_symbol: PROS1
disease_id: OMIM:612336
disease_name: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT
gene_symbol: ALG6
disease_id: ORPHA:79320
disease_name: ALG6-CDG
CDG syndrome type Ic
CDG-Ic
CDG1C
Carbohydrate deficient glycoprotein syndrome type Ic
Congenital disorder of glycosylation type 1c
Congenital disorder of glycosylation type Ic
Glucosyltransferase 1 deficiency
gene_symbol: B4GALT1
disease_id: ORPHA:79332
disease_name: B4GALT1-CDG
Beta-1,4-galactosyltransferase deficiency
CDG syndrome type IId
CDG-IId
CDG2D
Carbohydrate deficient glycoprotein syndrome type IId
Congenital disorder of glycosylation type 2d
Congenital disorder of glycosylation type IId
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
Phenotype: Normochromic microcytic anemia (HP:0004856)
Associated genes and diseases:
gene_symbol: DNAJC19
disease_id: OMIM:610198
disease_name: 3-METHYLGLUTACONIC ACIDURIA, TYPE V
gene_symbol: DNAJC19
disease_id: ORPHA:66634
disease_name: Dilated cardiomyopathy with ataxia
3-methylglutaconic aciduria type 5
DCMA syndrome
MGA5
Phenotype: Amegakaryocytic thrombocytopenia (HP:0004859)
Associated genes and diseases:
gene_symbol: MPL
disease_id: OMIM:604498
disease_name: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL
gene_symbol: MECOM
disease_id: ORPHA:71289
disease_name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ATRUS syndrome
gene_symbol: HOXA11
disease_id: ORPHA:71289
disease_name: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
ATRUS syndrome
gene_symbol: HOXA11
disease_id: OMIM:605432
disease_name: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1
gene_symbol: BRAF
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: MAP2K1
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
gene_symbol: PTPN11
disease_id: OMIM:163950
disease_name: NOONAN SYNDROME 1
Phenotype: Pigmented micronodular adrenocortical disease (HP:0001580)
Associated genes and diseases:
gene_symbol: PDE11A
disease_id: OMIM:610475
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 2
gene_symbol: PDE11A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome
gene_symbol: PRKAR1A
disease_id: OMIM:610489
disease_name: PIGMENTED NODULAR ADRENOCORTICAL DISEASE, PRIMARY, 1
gene_symbol: PRKAR1A
disease_id: ORPHA:1359
disease_name: Carney complex
Carney syndrome
Myxoma-spotty pigmentation-endocrine overactivity syndrome