TaoMedAI/RareMedData huggingface dataset:
Phenotype: Maculopapular exanthema (HP:0040186)
Associated genes and diseases:
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
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: NLRP3
disease_id: OMIM:191900
disease_name: MUCKLE-WELLS SYNDROME
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
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: 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: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: IKBKG
disease_id: OMIM:308300
disease_name: INCONTINENTIA PIGMENTI
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: BTNL2
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
gene_symbol: HLA-DRB1
disease_id: ORPHA:797
disease_name: Sarcoidosis
Besnier-Boeck-Schaumann disease
Boeck sarcoid
Phenotype: Neonatal sepsis (HP:0040187)
Associated genes and diseases:
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: G6PC3
disease_id: OMIM:612541
disease_name: NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE
gene_symbol: COG4
disease_id: ORPHA:263501
disease_name: COG4-CDG
CDG syndrome type IIj
CDG-IIj
CDG2J
Carbohydrate deficient glycoprotein syndrome type IIj
Congenital disorder of glycosylation type 2j
Congenital disorder of glycosylation type IIj
gene_symbol: SERAC1
disease_id: OMIM:614739
disease_name: 3-METHYLGLUTACONIC ACIDURIA WITH DEAFNESS, ENCEPHALOPATHY, AND LEIGH-LIKE SYNDROME
Phenotype: Osteochondrosis (HP:0040188)
Associated genes and diseases:
gene_symbol: SMAD3
disease_id: ORPHA:284984
disease_name: Aneurysm-osteoarthritis syndrome
gene_symbol: SMAD3
disease_id: OMIM:613795
disease_name: LOEYS-DIETZ SYNDROME 3
gene_symbol: LMX1B
disease_id: ORPHA:2614
disease_name: Nail-patella syndrome
Onychoosteodysplasia
Turner-Kieser syndrome
gene_symbol: SMAD2
disease_id: OMIM:619656
disease_name: LOEYS-DIETZ SYNDROME 6
gene_symbol: COL9A2
disease_id: OMIM:600204
disease_name: EPIPHYSEAL DYSPLASIA, MULTIPLE, 2
gene_symbol: MMP13
disease_id: OMIM:250400
disease_name: METAPHYSEAL DYSPLASIA, SPAHR TYPE
gene_symbol: ORC1
disease_id: OMIM:224690
disease_name: MEIER-GORLIN SYNDROME 1
gene_symbol: ACAN
disease_id: OMIM:165800
disease_name: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS
gene_symbol: FGFR1
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: KRAS
disease_id: ORPHA:2396
disease_name: Encephalocraniocutaneous lipomatosis
Haberland syndrome
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: ACTG1
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
gene_symbol: ACTB
disease_id: ORPHA:2995
disease_name: Baraitser-Winter cerebrofrontofacial syndrome
Phenotype: Increased circulating androgen concentration (HP:0030348)
Associated genes and diseases:
gene_symbol: NR3C1
disease_id: OMIM:615962
disease_name: GLUCOCORTICOID RESISTANCE, GENERALIZED
gene_symbol: HSD17B3
disease_id: ORPHA:752
disease_name: 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-beta-hydroxysteroid dehydrogenase 3 deficiency
17-ketoreductase deficiency
17-ketosteroidreductase deficiency
46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
gene_symbol: WNT4
disease_id: OMIM:158330
disease_name: MULLERIAN APLASIA AND HYPERANDROGENISM
gene_symbol: HSD3B2
disease_id: ORPHA:90791
disease_name: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
gene_symbol: GNAS
disease_id: ORPHA:562
disease_name: McCune-Albright syndrome
gene_symbol: NR2F2
disease_id: OMIM:618901
disease_name: 46,XX SEX REVERSAL 5
gene_symbol: AR
disease_id: ORPHA:90797
disease_name: Partial androgen insensitivity syndrome
PAIS
Partial androgen resistance syndrome
gene_symbol: AR
disease_id: ORPHA:99429
disease_name: Complete androgen insensitivity syndrome
CAIS
Complete androgen resistance syndrome
gene_symbol: FSHR
disease_id: ORPHA:64739
disease_name: Ovarian hyperstimulation syndrome
OHSS
gene_symbol: POLR3A
disease_id: OMIM:264090
disease_name: WIEDEMANN-RAUTENSTRAUCH SYNDROME
gene_symbol: POLR3A
disease_id: ORPHA:3455
disease_name: Wiedemann-Rautenstrauch syndrome
Neonatal progeroid syndrome
gene_symbol: ALMS1
disease_id: ORPHA:64
disease_name: Alström syndrome
gene_symbol: INSR
disease_id: ORPHA:769
disease_name: Rabson-Mendenhall syndrome
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: CYP11B1
disease_id: ORPHA:90795
disease_name: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
CAH due to 11-beta-hydroxylase deficiency
CYP11B1 deficiency
gene_symbol: ZNRF3
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TP53
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
Phenotype: Increased urine harderoporphyrin level (HP:0033627)
Associated genes and diseases:
gene_symbol: CPOX
disease_id: OMIM:618892
disease_name: HARDEROPORPHYRIA
Phenotype: Bowel irritability (HP:0033628)
Associated genes and diseases:
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
gene_symbol: MYMK
disease_id: OMIM:254940
disease_name: CAREY-FINEMAN-ZITER SYNDROME
Phenotype: Urticarial plaque (HP:0030351)
Associated genes and diseases:
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
Phenotype: Erythematous papule (HP:0030350)
Associated genes and diseases:
gene_symbol: HAVCR2
disease_id: ORPHA:86884
disease_name: Subcutaneous panniculitis-like T-cell lymphoma
SPTCL
Subcutaneous panniculitic T-cell lymphoma
gene_symbol: GNA14
disease_id: ORPHA:2122
disease_name: Kaposiform hemangioendothelioma
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: POGLUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: KRT5
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: POFUT1
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: PSENEN
disease_id: ORPHA:79145
disease_name: Dowling-Degos disease
Reticular pigment anomaly of flexures
gene_symbol: COL7A1
disease_id: ORPHA:79410
disease_name: Localized dystrophic epidermolysis bullosa, pretibial form
DEB-Pt
Localized DEB, pretibial form
gene_symbol: KRT14
disease_id: ORPHA:79400
disease_name: Localized epidermolysis bullosa simplex
EBS-loc
Epidermolysis bullosa simplex of palms and soles
Epidermolysis bullosa simplex, Weber-Cockayne type
Localized EBS
gene_symbol: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: DCLRE1C
disease_id: OMIM:602450
disease_name: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION
gene_symbol: XPA
disease_id: OMIM:278700
disease_name: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A
Phenotype: White scaling skin (HP:0040190)
Associated genes and diseases:
gene_symbol: CYP4F22
disease_id: OMIM:604777
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
gene_symbol: CASP14
disease_id: OMIM:617320
disease_name: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 12
Phenotype: Rectus femoris muscle atrophy (HP:0040191)
Associated genes and diseases:
gene_symbol: RYR1
disease_id: ORPHA:597
disease_name: Central core disease
gene_symbol: RYR1
disease_id: ORPHA:424107
disease_name: Congenital myopathy with myasthenic-like onset
gene_symbol: RYR1
disease_id: ORPHA:98905
disease_name: Congenital multicore myopathy with external ophthalmoplegia
Phenotype: Encephalomalacia (HP:0040197)
Associated genes and diseases:
gene_symbol: DNMT3A
disease_id: OMIM:615879
disease_name: TATTON-BROWN-RAHMAN SYNDROME
gene_symbol: IARS2
disease_id: ORPHA:506
disease_name: Leigh syndrome
Infantile subacute necrotizing encephalopathy
Leigh disease
gene_symbol: MSX2
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ALX4
disease_id: ORPHA:60015
disease_name: Enlarged parietal foramina
Catlin marks
Fenestrae parietales symmetricae
Foramina parietalia permagna
Hereditary cranium bifidum
Symmetric parietal foramina
gene_symbol: ZNFX1
disease_id: OMIM:619644
disease_name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION
gene_symbol: MICU1
disease_id: OMIM:615673
disease_name: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS
gene_symbol: ENPP1
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: ABCC6
disease_id: ORPHA:51608
disease_name: Generalized arterial calcification of infancy
Idiopathic infantile arterial calcification
Idiopathic obliterative arteriopathy
Infantile arteriosclerosis
Occlusive infantile arteriopathy
gene_symbol: THSD1
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: TGFBR3
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: COL3A1
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: ANGPTL6
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
gene_symbol: ENG
disease_id: ORPHA:231160
disease_name: Familial cerebral saccular aneurysm
Familial berry aneurysm
Familial intracranial saccular aneurysm
Phenotype: Non-medullary thyroid carcinoma (HP:0040198)
Associated genes and diseases:
gene_symbol: HABP2
disease_id: OMIM:616535
disease_name: THYROID CANCER, NONMEDULLARY, 5
gene_symbol: NKX2-1
disease_id: OMIM:188550
disease_name: THYROID CANCER, NONMEDULLARY, 1
gene_symbol: NRAS
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: SRGAP1
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: HRAS
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
gene_symbol: MINPP1
disease_id: OMIM:188470
disease_name: THYROID CANCER, NONMEDULLARY, 2
Phenotype: Non-small cell lung carcinoma (HP:0030358)
Associated genes and diseases:
gene_symbol: TP53
disease_id: OMIM:151623
disease_name: LI-FRAUMENI SYNDROME
gene_symbol: TP53
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: NDUFAF6
disease_id: OMIM:618913
disease_name: FANCONI RENOTUBULAR SYNDROME 5
gene_symbol: BAP1
disease_id: OMIM:614327
disease_name: TUMOR PREDISPOSITION SYNDROME
gene_symbol: ZNRF3
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
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: EGFR
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PPP2R1B
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ERCC6
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: MAP3K8
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: KRAS
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: SLC67A1
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PRKN
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: CYP2A6
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: ERBB2
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: BRAF
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: IRF1
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: CASP8
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: FASLG
disease_id: OMIM:211980
disease_name: LUNG CANCER
gene_symbol: PIK3CA
disease_id: OMIM:211980
disease_name: LUNG CANCER
Phenotype: Small cell lung carcinoma (HP:0030357)
Associated genes and diseases:
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
Phenotype: Spondylitis (HP:0033631)
Associated genes and diseases:
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
Phenotype: Anti-endomysial antibody positivity (HP:0033637)
Associated genes and diseases:
gene_symbol: AIRE
disease_id: OMIM:240300
disease_name: AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA
Phenotype: Intralobular septal thickening (HP:0033638)
Associated genes and diseases:
gene_symbol: SFTPA1
disease_id: OMIM:619611
disease_name: INTERSTITIAL LUNG DISEASE 1
gene_symbol: SFTPC
disease_id: OMIM:610913
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 2
Phenotype: Abnormal circulating eicosanoid concentration (HP:0030361)
Associated genes and diseases:
gene_symbol: SLC12A1
disease_id: OMIM:601678
disease_name: BARTTER SYNDROME, TYPE 1, ANTENATAL
gene_symbol: KCNJ1
disease_id: OMIM:241200
disease_name: BARTTER SYNDROME, TYPE 2, ANTENATAL
gene_symbol: PLA2G4A
disease_id: OMIM:618372
disease_name: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
gene_symbol: LTC4S
disease_id: OMIM:614037
disease_name: LEUKOTRIENE C4 SYNTHASE DEFICIENCY
Phenotype: Reduced muscle carnitine level (HP:0030362)
Associated genes and diseases:
gene_symbol: SLC22A5
disease_id: OMIM:212140
disease_name: CARNITINE DEFICIENCY, SYSTEMIC PRIMARY
Phenotype: Finger hyperphalangy (HP:0030367)
Associated genes and diseases:
gene_symbol: ERF
disease_id: OMIM:617180
disease_name: CHITAYAT SYNDROME
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
Phenotype: Hyperphalangy of the 2nd finger (HP:0030368)
Associated genes and diseases:
gene_symbol: TGDS
disease_id: OMIM:616145
disease_name: CATEL-MANZKE SYNDROME
Phenotype: Induced vaginal delivery (HP:0030369)
Associated genes and diseases:
gene_symbol: CYP11A1
disease_id: ORPHA:289548
disease_name: Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
gene_symbol: CYP11A1
disease_id: ORPHA:168558
disease_name: 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
XY sex reversal-adrenal failure
Phenotype: Acetabular erosions (HP:0033640)
Associated genes and diseases:
gene_symbol: HYAL1
disease_id: OMIM:601492
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE IX
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated genes and diseases:
gene_symbol: PEX6
disease_id: OMIM:614862
disease_name: PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)
gene_symbol: ABCD1
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: BCAP31
disease_id: ORPHA:369942
disease_name: CADDS
Contiguous ABCD1 DXS1357E deletion syndrome
Zellweger-like contiguous gene deletion syndrome
gene_symbol: PEX2
disease_id: OMIM:614866
disease_name: PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
gene_symbol: PEX14
disease_id: OMIM:614887
disease_name: PEROXISOME BIOGENESIS DISORDER 13A (ZELLWEGER)
gene_symbol: HSD17B4
disease_id: OMIM:261515
disease_name: D-BIFUNCTIONAL PROTEIN DEFICIENCY
gene_symbol: PEX12
disease_id: OMIM:614859
disease_name: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER)
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
gene_symbol: REPS1
disease_id: OMIM:617916
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
gene_symbol: AP1S1
disease_id: OMIM:609313
disease_name: MENTAL RETARDATION, ENTEROPATHY, DEAFNESS, PERIPHERAL NEUROPATHY, ICHTHYOSIS, AND KERATODERMA
Phenotype: Elevated circulating erythropoietin concentration (HP:0033644)
Associated genes and diseases:
gene_symbol: EPAS1
disease_id: OMIM:611783
disease_name: ERYTHROCYTOSIS, FAMILIAL, 4
gene_symbol: EPO
disease_id: OMIM:617907
disease_name: ERYTHROCYTOSIS, FAMILIAL, 5
gene_symbol: VHL
disease_id: OMIM:263400
disease_name: ERYTHROCYTOSIS, FAMILIAL, 2
Phenotype: Midline brainstem cleft (HP:0033645)
Associated genes and diseases:
gene_symbol: DCC
disease_id: OMIM:617542
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Phenotype: Absent hippocampal commissure (HP:0033646)
Associated genes and diseases:
gene_symbol: DCC
disease_id: OMIM:617542
disease_name: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT
Phenotype: Paraseptal emphysema (HP:0033649)
Associated genes and diseases:
gene_symbol: ABCA3
disease_id: OMIM:610921
disease_name: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 3
Phenotype: Abnormal memory B cell proportion (HP:0030373)
Associated genes and diseases:
gene_symbol: CTPS1
disease_id: OMIM:615897
disease_name: IMMUNODEFICIENCY 24
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: IKBKB
disease_id: OMIM:618204
disease_name: IMMUNODEFICIENCY 15A
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62
gene_symbol: TOM1
disease_id: OMIM:619510
disease_name: IMMUNODEFICIENCY 85 AND AUTOIMMUNITY
gene_symbol: POMP
disease_id: OMIM:618048
disease_name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2
gene_symbol: SP110
disease_id: ORPHA:79124
disease_name: Hepatic veno-occlusive disease-immunodeficiency syndrome
VODI syndrome
gene_symbol: BACH2
disease_id: OMIM:618394
disease_name: IMMUNODEFICIENCY 60
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: REL
disease_id: OMIM:619652
disease_name: IMMUNODEFICIENCY 92
gene_symbol: TET2
disease_id: OMIM:619126
disease_name: IMMUNODEFICIENCY 75
gene_symbol: CD19
disease_id: OMIM:613493
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 3
gene_symbol: LCP2
disease_id: OMIM:619374
disease_name: IMMUNODEFICIENCY 81
gene_symbol: SOCS1
disease_id: OMIM:619375
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: ICOSLG
disease_id: OMIM:620825
disease_name: IMMUNODEFICIENCY 119
gene_symbol: HYOU1
disease_id: OMIM:233600
disease_name: IMMUNODEFICIENCY 59 AND HYPOGLYCEMIA
gene_symbol: FNIP1
disease_id: OMIM:619705
disease_name: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY
gene_symbol: IRF2BP2
disease_id: OMIM:617765
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 14
gene_symbol: MAP3K14
disease_id: OMIM:620449
disease_name: IMMUNODEFICIENCY 112
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: IL6R
disease_id: OMIM:618944
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 5, AUTOSOMAL RECESSIVE
gene_symbol: LRBA
disease_id: OMIM:614700
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY
gene_symbol: IL21
disease_id: OMIM:615767
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 11
gene_symbol: CTNNBL1
disease_id: OMIM:619846
disease_name: IMMUNODEFICIENCY 99 WITH HYPOGAMMAGLOBULINEMIA AND AUTOIMMUNE CYTOPENIAS
gene_symbol: ICOS
disease_id: OMIM:607594
disease_name: IMMUNODEFICIENCY, COMMON VARIABLE, 1
gene_symbol: POLD3
disease_id: OMIM:620869
disease_name: OMIM:620869
Phenotype: Abnormal transitional B cell proportion (HP:0030379)
Associated genes and diseases:
gene_symbol: PIK3R1
disease_id: OMIM:616005
disease_name: IMMUNODEFICIENCY 36
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: PIK3CD
disease_id: OMIM:615513
disease_name: IMMUNODEFICIENCY 14
gene_symbol: ARHGEF1
disease_id: OMIM:618459
disease_name: IMMUNODEFICIENCY 62