Phenotype: Abnormal mediastinum morphology (HP:0045026)
Associated genes and diseases:
gene_symbol: GLMN
disease_id: ORPHA:83454
disease_name: Glomuvenous malformation
Glomangiomatosis
Hereditary multiple glomangiomas
Multiple glomus tumors
VMGLOM
Venous malformations with glomus cells
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: NAB2
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: STAT6
disease_id: ORPHA:2126
disease_name: Solitary fibrous tumor
SFT
gene_symbol: BAP1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: NF2
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCB1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PDGFB
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TRAF7
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMO
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: AKT1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: PIK3CA
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: TERT
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SUFU
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: SMARCE1
disease_id: ORPHA:2495
disease_name: Meningioma
gene_symbol: RHBDF2
disease_id: ORPHA:2198
disease_name: Palmoplantar keratoderma-esophageal carcinoma syndrome
Bennion-Patterson syndrome
Howell-Evans syndrome
Keratosis palmoplantaris-esophageal carcinoma syndrome
Palmoplantar hyperkeratosis-esophageal carcinoma syndrome
Tylosis-oesophageal carcinoma syndrome
gene_symbol: BRD4
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
gene_symbol: NUTM1
disease_id: ORPHA:443167
disease_name: NUT midline carcinoma
NMC
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: OMIM:181000
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DRB1
disease_id: ORPHA:545
disease_name: Follicular lymphoma
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DPB1
disease_id: ORPHA:133
disease_name: Chronic beryllium disease
Berylliosis
Chronic berylliosis
Chronic beryllium lung disease
gene_symbol: BIRC3
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: MALT1
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: FOXP1
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: IGH
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: IGH
disease_id: ORPHA:545
disease_name: Follicular lymphoma
gene_symbol: BCL10
disease_id: ORPHA:52417
disease_name: MALT lymphoma
Extranodal marginal zone B-cell lymphoma
MALToma
Mucosa-associated lymphatic tissue lymphoma
Mucosa-associated lymphoid tissue lymphoma
gene_symbol: MAGT1
disease_id: OMIM:300853
disease_name: IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA
gene_symbol: NCF2
disease_id: OMIM:233710
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 2
gene_symbol: NCF2
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: BTNL2
disease_id: OMIM:612387
disease_name: SARCOIDOSIS, SUSCEPTIBILITY TO, 2
gene_symbol: PRKCD
disease_id: OMIM:615559
disease_name: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III
gene_symbol: IRF1
disease_id: OMIM:620668
disease_name: IMMUNODEFICIENCY 117
gene_symbol: BCL2
disease_id: ORPHA:545
disease_name: Follicular lymphoma
gene_symbol: BCL6
disease_id: ORPHA:545
disease_name: Follicular lymphoma
gene_symbol: EIF2AK4
disease_id: ORPHA:199241
disease_name: Pulmonary capillary hemangiomatosis
gene_symbol: EIF2AK4
disease_id: OMIM:234810
disease_name: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE
gene_symbol: EWSR1
disease_id: ORPHA:83469
disease_name: Desmoplastic small round cell tumor
DSRCT
gene_symbol: WT1
disease_id: ORPHA:83469
disease_name: Desmoplastic small round cell tumor
DSRCT
gene_symbol: RASGRP1
disease_id: OMIM:618534
disease_name: IMMUNODEFICIENCY 64
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: AGR2
disease_id: OMIM:620233
disease_name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA
gene_symbol: CYBB
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: CYBA
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF4
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: NCF1
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis
gene_symbol: CYBC1
disease_id: ORPHA:379
disease_name: Chronic granulomatous disease
CGD
Chronic septic granulomatosis