Phenotype: Abdominal pain (HP:0002027)
Associated genes and diseases:
gene_symbol: PTPN22
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: PTPN22
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-B
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-B
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: HLA-B
disease_id: ORPHA:29207
disease_name: Reactive arthritis
Fiessinger-Leroy disease
gene_symbol: HLA-B
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: HLA-DRB1
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: HLA-DRB1
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: P4HA2
disease_id: ORPHA:397
disease_name: Giant cell arteritis
Horton disease
Temporal arteritis
gene_symbol: ASXL1
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: ASXL1
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: TET2
disease_id: ORPHA:98850
disease_name: Aggressive systemic mastocytosis
gene_symbol: TET2
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: 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: SRSF2
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: OTULIN
disease_id: OMIM:617099
disease_name: AUTOINFLAMMATION, PANNICULITIS, AND DERMATOSIS SYNDROME
gene_symbol: LACC1
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: MIF
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: IL6
disease_id: ORPHA:85414
disease_name: Systemic-onset juvenile idiopathic arthritis
Still disease
Systemic-onset JIA
gene_symbol: IL6
disease_id: OMIM:266600
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1
gene_symbol: ALDOB
disease_id: OMIM:229600
disease_name: FRUCTOSE INTOLERANCE, HEREDITARY
gene_symbol: ALDOB
disease_id: ORPHA:469
disease_name: Hereditary fructose intolerance
Hereditary fructose-1-phosphate aldolase deficiency
Hereditary fructosemia
gene_symbol: CASK
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: G6PD
disease_id: OMIM:300908
disease_name: ANEMIA, NONSPHEROCYTIC HEMOLYTIC, DUE TO G6PD DEFICIENCY
gene_symbol: MVK
disease_id: OMIM:260920
disease_name: HYPER-IgD SYNDROME
gene_symbol: MVK
disease_id: ORPHA:343
disease_name: Hyperimmunoglobulinemia D with periodic fever
HIDS
Hyper-IgD syndrome
Hyperimmunoglobinemia D with recurrent fever
Hyperimmunoglobulinemia D syndrome
Partial mevalonate kinase deficiency
gene_symbol: OTC
disease_id: OMIM:311250
disease_name: ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO
gene_symbol: OPLAH
disease_id: OMIM:260005
disease_name: 5-OXOPROLINASE DEFICIENCY
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: KIT
disease_id: ORPHA:79455
disease_name: Cutaneous mastocytoma
Cutaneous local mastocytoma
Multiple mastocytoma
Solitary mastocytoma
gene_symbol: MLYCD
disease_id: OMIM:248360
disease_name: MALONYL-CoA DECARBOXYLASE DEFICIENCY
gene_symbol: PKHD1
disease_id: ORPHA:53035
disease_name: Caroli disease
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: SLC4A1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: SPTB
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTB
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: SPTA1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: SPTA1
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: ANK1
disease_id: ORPHA:822
disease_name: Hereditary spherocytosis
Minkowski-Chauffard disease
gene_symbol: EPCAM
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: EPCAM
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MLH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PMS2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: PMS2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TGFBR2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: KRAS
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PIK3CA
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH6
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PMS1
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: ORPHA:144
disease_name: Lynch syndrome
gene_symbol: MSH2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: ABCD1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: RET
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: GDNF
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SMO
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ECE1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: SREBF1
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDN3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDN3
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SEMA3D
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ATP7A
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDNRB
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: EDNRB
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SEMA3C
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB2
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: ERBB3
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: NRTN
disease_id: ORPHA:388
disease_name: Hirschsprung disease
Aganglionic megacolon
Colonic aganglionosis
Congenital intestinal aganglionosis
HSCR
gene_symbol: MET
disease_id: ORPHA:33402
disease_name: Pediatric hepatocellular carcinoma
Childhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC
gene_symbol: CTNNB1
disease_id: ORPHA:33402
disease_name: Pediatric hepatocellular carcinoma
Childhood-onset HCC
Childhood-onset hepatocellular carcinoma
Pediatric HCC
gene_symbol: CTNNB1
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CTNNB1
disease_id: ORPHA:873
disease_name: Desmoid tumor
Aggressive fibromatosis
Desmoid type fibromatosis
gene_symbol: MEFV
disease_id: OMIM:249100
disease_name: FAMILIAL MEDITERRANEAN FEVER
gene_symbol: MEFV
disease_id: ORPHA:342
disease_name: Familial Mediterranean fever
Benign paroxysmal peritonitis
Benign recurrent polyserositis
FMF
Familial paroxysmal polyserositis
Periodic disease
gene_symbol: MEFV
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MEFV
disease_id: OMIM:134610
disease_name: FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT
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: WT1
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: WT1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: SEMA4A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: ATM
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: NPAT
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLE
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLE
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: BRCA2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA2
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: BRCA2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: BRCA2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: BMPR1A
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BMPR1A
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: BMPR1A
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: RPS20
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: MUTYH
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: MUTYH
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: POLD1
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: POLD1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CHEK2
disease_id: ORPHA:440437
disease_name: Familial colorectal cancer Type X
FCCTX
gene_symbol: BRCA1
disease_id: ORPHA:168829
disease_name: Primary peritoneal carcinoma
EOPPC
Extra-ovarian primary peritoneal carcinoma
PPC
Primary peritoneal serous carcinoma
Serous surface papillary carcinoma
gene_symbol: BRCA1
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: BRCA1
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: PPOX
disease_id: OMIM:176200
disease_name: VARIEGATE PORPHYRIA
gene_symbol: PPOX
disease_id: ORPHA:79473
disease_name: Variegate porphyria
Porphyria variegata
Protoporphyrinogen oxidase deficiency
gene_symbol: POLG
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: POLG
disease_id: OMIM:613662
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
gene_symbol: POLG
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: TYMP
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: TYMP
disease_id: OMIM:603041
disease_name: MITOCHONDRIAL DNA DEPLETION SYNDROME 1 (MNGIE TYPE)
gene_symbol: LIG3
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: RRM2B
disease_id: ORPHA:298
disease_name: Mitochondrial neurogastrointestinal encephalomyopathy
MNGIE
gene_symbol: GCGR
disease_id: OMIM:619290
disease_name: MAHVASH DISEASE
gene_symbol: GCGR
disease_id: ORPHA:438274
disease_name: GCGR-related hyperglucagonemia
Mahvash disease
gene_symbol: HBB
disease_id: OMIM:603903
disease_name: SICKLE CELL ANEMIA
gene_symbol: HBB
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBB
disease_id: ORPHA:90039
disease_name: Hemoglobin D disease
gene_symbol: GPR35
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: SEMA4D
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MST1
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: TCF4
disease_id: ORPHA:171
disease_name: Primary sclerosing cholangitis
PSC
gene_symbol: MSH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: NTHL1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MCM9
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC2
disease_id: ORPHA:538
disease_name: Lymphangioleiomyomatosis
LAM
gene_symbol: AXIN2
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CDH1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MBD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: STK11
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: STK11
disease_id: OMIM:175200
disease_name: PEUTZ-JEGHERS SYNDROME
gene_symbol: STK11
disease_id: ORPHA:2869
disease_name: Peutz-Jeghers syndrome
Hamartomatous intestinal polyposis
PJS
gene_symbol: TSC1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: TSC1
disease_id: ORPHA:538
disease_name: Lymphangioleiomyomatosis
LAM
gene_symbol: GREM1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: MLH3
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: CTNNA1
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: APC
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: APC
disease_id: OMIM:619182
disease_name: GASTRIC ADENOCARCINOMA AND PROXIMAL POLYPOSIS OF THE STOMACH
gene_symbol: APC
disease_id: ORPHA:873
disease_name: Desmoid tumor
Aggressive fibromatosis
Desmoid type fibromatosis
gene_symbol: PTEN
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: PTEN
disease_id: ORPHA:79076
disease_name: Juvenile polyposis of infancy
Infantile juvenile polyposis syndrome
gene_symbol: SMAD4
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: SMAD4
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: RNF43
disease_id: OMIM:174900
disease_name: JUVENILE POLYPOSIS SYNDROME
gene_symbol: NLRP3
disease_id: ORPHA:47045
disease_name: Familial cold urticaria
FCAS
FCU
Familial cold autoinflammatory syndrome
gene_symbol: NLRP3
disease_id: ORPHA:575
disease_name: Muckle-Wells syndrome
Neutrophilic urticaria
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
gene_symbol: JAK2
disease_id: ORPHA:729
disease_name: Polycythemia vera
Acquired primary erythrocytosis
Osler-Vaquez disease
PV
Polycythemia rubra vera
Vaquez disease
gene_symbol: JAK2
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: TNFRSF1A
disease_id: OMIM:142680
disease_name: PERIODIC FEVER, FAMILIAL, AUTOSOMAL DOMINANT
gene_symbol: TNFRSF1A
disease_id: ORPHA:32960
disease_name: Tumor necrosis factor receptor 1 associated periodic syndrome
Familial Hibernian fever
TNF receptor 1-associated periodic syndrome
TRAPS syndrome
gene_symbol: FSHR
disease_id: OMIM:608115
disease_name: OVARIAN HYPERSTIMULATION SYNDROME
gene_symbol: FSHR
disease_id: ORPHA:64739
disease_name: Ovarian hyperstimulation syndrome
OHSS
gene_symbol: HLA-DQA1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: HLA-DQB1
disease_id: OMIM:212750
disease_name: CELIAC DISEASE, SUSCEPTIBILITY TO, 1
gene_symbol: CNBP
disease_id: ORPHA:606
disease_name: Proximal myotonic myopathy
Myotonic dystrophy type 2
Proximal myotonic dystrophy
Ricker disease
Ricker syndrome
gene_symbol: GOSR2
disease_id: OMIM:620166
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES
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: TP53
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PRKAR1A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
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: CDKN2A
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: CDKN2A
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: TERT
disease_id: ORPHA:1501
disease_name: Adrenocortical carcinoma
ACC
gene_symbol: EPB41
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: GYPC
disease_id: ORPHA:288
disease_name: Hereditary elliptocytosis
HE
gene_symbol: NOD2
disease_id: OMIM:617321
disease_name: YAO SYNDROME
gene_symbol: NOD2
disease_id: OMIM:266600
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 1
gene_symbol: GUCY2C
disease_id: OMIM:614616
disease_name: DIARRHEA 6
gene_symbol: ABCC2
disease_id: ORPHA:234
disease_name: Dubin-Johnson syndrome
Dubin-Sprinz disease
Hyperbilirubinemia type 2
Sprinz-Nelson syndrome
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: 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: CARD8
disease_id: OMIM:619079
disease_name: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 30
gene_symbol: PIGT
disease_id: OMIM:615399
disease_name: PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
gene_symbol: ATP7B
disease_id: ORPHA:905
disease_name: Wilson disease
Hepatolenticular degeneration
gene_symbol: FLT1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STOX1
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: CORIN
disease_id: ORPHA:275555
disease_name: Preeclampsia
gene_symbol: STX1A
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CLIP2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: DNAJC30
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: FKBP6
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: RFC2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2I
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: LIMK1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: VPS37D
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: METTL27
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BUD23
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: EIF4H
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: GTF2IRD2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TBL2
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: NCF1
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: TMEM270
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: BAZ1B
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: ELN
disease_id: ORPHA:904
disease_name: Williams syndrome
Deletion 7q11.23
Monosomy 7q11.23
Williams-Beuren syndrome
gene_symbol: CTLA4
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPB1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: PRTN3
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: HLA-DPA1
disease_id: ORPHA:900
disease_name: Granulomatosis with polyangiitis
GPA
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: PIGY
disease_id: OMIM:616809
disease_name: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6
gene_symbol: CFTR
disease_id: OMIM:167800
disease_name: PANCREATITIS, HEREDITARY
gene_symbol: CTRC
disease_id: OMIM:167800
disease_name: PANCREATITIS, HEREDITARY
gene_symbol: CTRC
disease_id: ORPHA:676
disease_name: Hereditary chronic pancreatitis
gene_symbol: PRSS2
disease_id: OMIM:167800
disease_name: PANCREATITIS, HEREDITARY
gene_symbol: PRSS2
disease_id: ORPHA:676
disease_name: Hereditary chronic pancreatitis
gene_symbol: PRSS1
disease_id: OMIM:167800
disease_name: PANCREATITIS, HEREDITARY
gene_symbol: PRSS1
disease_id: ORPHA:676
disease_name: Hereditary chronic pancreatitis
gene_symbol: SPINK1
disease_id: OMIM:167800
disease_name: PANCREATITIS, HEREDITARY
gene_symbol: SPINK1
disease_id: OMIM:608189
disease_name: TROPICAL CALCIFIC PANCREATITIS
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
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: ATP8B1
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ABCB11
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: ABCB4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: NR1H4
disease_id: ORPHA:69665
disease_name: Intrahepatic cholestasis of pregnancy
Gravidic intrahepatic cholestasis
Pregnancy-related cholestasis
Recurrent intrahepatic cholestasis of pregnancy
gene_symbol: SAA1
disease_id: ORPHA:85445
disease_name: AA amyloidosis
Inflammatory amyloidosis
Reactive amyloidosis
gene_symbol: ALG8
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: SEC63
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: PRKCSH
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: LRP5
disease_id: ORPHA:2924
disease_name: Isolated polycystic liver disease
ADPCLD
Autosomal dominant polycystic liver disease
PCLD
gene_symbol: FUS
disease_id: ORPHA:99967
disease_name: Myxoid/round cell liposarcoma
MRCLS
gene_symbol: DDIT3
disease_id: ORPHA:99967
disease_name: Myxoid/round cell liposarcoma
MRCLS
gene_symbol: IRF4
disease_id: ORPHA:3452
disease_name: Whipple disease
Intestinal lipodystrophy
gene_symbol: ABCA1
disease_id: ORPHA:31150
disease_name: Tangier disease
ATP-binding cassette transporter A1 deficiency
Analphalipoproteinemia
gene_symbol: TRU-TCA1-1
disease_id: OMIM:620198
disease_name: THYROID HORMONE METABOLISM, ABNORMAL, 3
gene_symbol: MED12
disease_id: OMIM:301068
disease_name: HARDIKAR SYNDROME
gene_symbol: CALR
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: F5
disease_id: ORPHA:131
disease_name: Budd-Chiari syndrome
BCS
gene_symbol: GLA
disease_id: OMIM:301500
disease_name: FABRY DISEASE
gene_symbol: GLA
disease_id: ORPHA:324
disease_name: Fabry disease
Alpha-galactosidase A deficiency
Anderson-Fabry disease
FD
gene_symbol: RAD21
disease_id: OMIM:611376
disease_name: MUNGAN SYNDROME
gene_symbol: BMP6
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: HFE
disease_id: ORPHA:465508
disease_name: Symptomatic form of HFE-related hemochromatosis
Symptomatic form of classic hemochromatosis
Symptomatic form of hemochromatosis type 1
gene_symbol: HFE
disease_id: OMIM:235200
disease_name: HEMOCHROMATOSIS, TYPE 1
gene_symbol: TREH
disease_id: ORPHA:103909
disease_name: Trehalase deficiency
Isolated trehalose intolerance
gene_symbol: TREH
disease_id: OMIM:612119
disease_name: TREHALASE DEFICIENCY
gene_symbol: PIEZO1
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: KCNN4
disease_id: ORPHA:3202
disease_name: Dehydrated hereditary stomatocytosis
Hereditary xerocytosis
gene_symbol: SERPING1
disease_id: OMIM:106100
disease_name: ANGIOEDEMA, HEREDITARY, TYPE I
gene_symbol: SERPING1
disease_id: ORPHA:100050
disease_name: Hereditary angioedema type 1
HAE 1
HAE-I
Hereditary angioneurotic edema type 1
gene_symbol: TBK1
disease_id: OMIM:620880
disease_name: OMIM:620880
gene_symbol: ABCG8
disease_id: OMIM:210250
disease_name: SITOSTEROLEMIA 1
gene_symbol: TCIRG1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
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: ELANE
disease_id: ORPHA:2686
disease_name: Cyclic neutropenia
gene_symbol: GFI1
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: CLPB
disease_id: ORPHA:486
disease_name: Autosomal dominant severe congenital neutropenia
gene_symbol: SI
disease_id: OMIM:222900
disease_name: SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL
gene_symbol: SI
disease_id: ORPHA:35122
disease_name: Congenital sucrase-isomaltase deficiency
CSID
Congenital sucrose intolerance
Disaccharide intolerance
gene_symbol: ELF4
disease_id: OMIM:301074
disease_name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
gene_symbol: RNF168
disease_id: ORPHA:420741
disease_name: RIDDLE syndrome
RNF168 deficiency
Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
gene_symbol: CLCNKB
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: ORPHA:358
disease_name: Gitelman syndrome
gene_symbol: SLC12A3
disease_id: OMIM:263800
disease_name: GITELMAN SYNDROME
gene_symbol: MMUT
disease_id: ORPHA:79312
disease_name: Vitamin B12-unresponsive methylmalonic acidemia type mut-
Partial deficiency of methylmalonyl-CoA mutase
Vitamin B12-unresponsive methylmalonic aciduria type mut-
gene_symbol: GBA1
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: SCARB2
disease_id: ORPHA:77259
disease_name: Gaucher disease type 1
Non-cerebral juvenile Gaucher disease
gene_symbol: IL23R
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: STAT4
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: IL10
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: CCR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: FAS
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IL12A-AS1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: TLR4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: IFNGR1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: C4A
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: UBAC2
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: ERAP1
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: KLRC4
disease_id: ORPHA:117
disease_name: Behçet disease
gene_symbol: MCM6
disease_id: OMIM:223100
disease_name: LACTOSE INTOLERANCE, ADULT TYPE
gene_symbol: GNA11
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: CASR
disease_id: ORPHA:428
disease_name: Autosomal dominant hypocalcemia
AD hypocalcemia
gene_symbol: CASR
disease_id: ORPHA:676
disease_name: Hereditary chronic pancreatitis
gene_symbol: SPP1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: SAT1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: IRAK1
disease_id: ORPHA:93552
disease_name: Pediatric systemic lupus erythematosus
SLE, pediatric onset
gene_symbol: EPOR
disease_id: ORPHA:90042
disease_name: Primary familial polycythemia
Congenital erythrocytosis due to erythropoietin receptor mutation
Congenital polycythemia due to erythropoietin receptor mutation
Familial erythrocytosis
PFCP
Primary congenital erythrocytosis
Primary familial and congenital polycythemia
gene_symbol: DNASE1L3
disease_id: ORPHA:36412
disease_name: Hypocomplementemic urticarial vasculitis
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
gene_symbol: BCL11A
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: KLF1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG1
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: HBG2
disease_id: ORPHA:251380
disease_name: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
HPFH-sickle cell disease syndrome
gene_symbol: FGF13
disease_id: OMIM:301058
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90
gene_symbol: MYC
disease_id: ORPHA:543
disease_name: Burkitt lymphoma
Small non-cleaved cell lymphoma
gene_symbol: KIF1B
disease_id: OMIM:256700
disease_name: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1
gene_symbol: PTPN3
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: ROS1
disease_id: ORPHA:70567
disease_name: Cholangiocarcinoma
Bile duct cancer
CCA
gene_symbol: MITF
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SOX10
disease_id: ORPHA:897
disease_name: Waardenburg-Shah syndrome
Shah-Waardenburg syndrome
WS4
Waardenburg syndrome type 4
Waardenburg-Hirschsprung syndrome
gene_symbol: SOX10
disease_id: ORPHA:163746
disease_name: Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Neurologic Waardenburg-Shah syndrome
PCWH
WS4 plus
gene_symbol: REST
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: DIS3L2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: CTR9
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIP13
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: TRIM28
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: POU6F2
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: GPC3
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: H19
disease_id: ORPHA:654
disease_name: Nephroblastoma
Renal embryonic tumor
Wilms tumor
gene_symbol: NPHS1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CD2AP
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP93
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MYO1E
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: INF2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: GAPVD1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP107
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANKFY1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: KANK2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ANLN
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: AVIL
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PTPRO
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: CRB2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP205
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: EMP2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP37
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PLCE1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP85
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: COL4A3
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ARHGDIA
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: COQ8B
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP160
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: MAGI2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ACTN4
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: TRPC6
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: APOL1
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: TBC1D8B
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: LAMA5
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NPHS2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: ARHGAP24
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: DAAM2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: PAX2
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: NUP133
disease_id: ORPHA:656
disease_name: Hereditary steroid-resistant nephrotic syndrome
Familial idiopathic steroid-resistant nephrotic syndrome
Genetic FSGS
Genetic SRNS
Hereditary SRNS
Isolated SRNS
Monogenic SRNS
gene_symbol: IKZF1
disease_id: ORPHA:36426
disease_name: Stevens-Johnson syndrome
Dermatostomatitis, Stevens Johnson type
gene_symbol: RBCK1
disease_id: OMIM:615895
disease_name: POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY
gene_symbol: DMPK
disease_id: ORPHA:589821
disease_name: Congenital-onset Steinert myotonic dystrophy
Congenital-onset Steinert disease
Congenital-onset myotonic dystrophy type 1
gene_symbol: RABL3
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALB2
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: PALLD
disease_id: ORPHA:1333
disease_name: Familial pancreatic carcinoma
Familial pancreatic cancer
gene_symbol: TRPV6
disease_id: ORPHA:676
disease_name: Hereditary chronic pancreatitis
gene_symbol: CPA1
disease_id: ORPHA:676
disease_name: Hereditary chronic pancreatitis
gene_symbol: BMP2
disease_id: OMIM:235200
disease_name: HEMOCHROMATOSIS, TYPE 1
gene_symbol: TRPM4
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: NKX2-5
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: SCN1B
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: SCN5A
disease_id: ORPHA:871
disease_name: Familial progressive cardiac conduction defect
Familial Lenègre disease
Familial Lev disease
Familial Lev-Lenègre disease
Familial PCCD
Familial progressive heart block
Hereditary bundle branch defect
gene_symbol: SDHB
disease_id: ORPHA:97286
disease_name: Carney-Stratakis syndrome
Carney dyad
Carney-Stratakis dyad
GIST-paraganglioma dyad
Paraganglioma and gastric stromal sarcoma
gene_symbol: SDHC
disease_id: ORPHA:97286
disease_name: Carney-Stratakis syndrome
Carney dyad
Carney-Stratakis dyad
GIST-paraganglioma dyad
Paraganglioma and gastric stromal sarcoma
gene_symbol: SDHD
disease_id: ORPHA:97286
disease_name: Carney-Stratakis syndrome
Carney dyad
Carney-Stratakis dyad
GIST-paraganglioma dyad
Paraganglioma and gastric stromal sarcoma
gene_symbol: CEBPE
disease_id: OMIM:260570
disease_name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION
gene_symbol: PORCN
disease_id: ORPHA:2092
disease_name: Focal dermal hypoplasia
Goltz syndrome
Goltz-Gorlin syndrome
gene_symbol: SPTBN1
disease_id: OMIM:619475
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES
gene_symbol: HPS1
disease_id: OMIM:203300
disease_name: HERMANSKY-PUDLAK SYNDROME 1
gene_symbol: CEL
disease_id: OMIM:609812
disease_name: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION
gene_symbol: HS3ST6
disease_id: OMIM:619367
disease_name: ANGIOEDEMA, HEREDITARY, 8
gene_symbol: POMT1
disease_id: ORPHA:86812
disease_name: POMT1-related limb-girdle muscular dystrophy R11
Autosomal recessive limb-girdle muscular dystrophy type 2K
LGMD type 2K
LGMD2K
Limb-girdle muscular dystrophy type 2K
Limb-girdle muscular dystrophy-intellectual disability syndrome
POMT1-related LGMD R11
gene_symbol: ADA2
disease_id: OMIM:615688
disease_name: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME
gene_symbol: CFH
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: CFI
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: CD46
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: HELLPAR
disease_id: ORPHA:244242
disease_name: HELLP syndrome
Hemolysis, elevated liver enzymes, low platelets in pregnancy
Hemolysis-elevated liver enzymes-low platelets syndrome
gene_symbol: NLRP12
disease_id: OMIM:611762
disease_name: FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: HMBS
disease_id: OMIM:176000
disease_name: PORPHYRIA, ACUTE INTERMITTENT
gene_symbol: HMBS
disease_id: ORPHA:79276
disease_name: Acute intermittent porphyria
gene_symbol: VHL
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
gene_symbol: CCND1
disease_id: ORPHA:892
disease_name: Von Hippel-Lindau disease
Familial cerebelloretinal angiomatosis
Lindau disease
VHL
Von Hippel-Lindau syndrome
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: UNC45A
disease_id: OMIM:619377
disease_name: OSTEOOTOHEPATOENTERIC SYNDROME
gene_symbol: ALAD
disease_id: ORPHA:100924
disease_name: Porphyria due to ALA dehydratase deficiency
ALAD porphyria
Porphyria due to ALAD deficiency
Porphyria due to delta-aminolevulinate dehydratase deficiency
Porphyria of Doss
gene_symbol: ACTG2
disease_id: OMIM:155310
disease_name: VISCERAL MYOPATHY
gene_symbol: CPOX
disease_id: OMIM:121300
disease_name: COPROPORPHYRIA, HEREDITARY
gene_symbol: CPOX
disease_id: ORPHA:79273
disease_name: Hereditary coproporphyria
gene_symbol: SYK
disease_id: OMIM:619381
disease_name: IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION
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: RARA
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: 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: CD55
disease_id: OMIM:226300
disease_name: COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY
gene_symbol: RIPK1
disease_id: OMIM:618852
disease_name: AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY
gene_symbol: SLC25A26
disease_id: OMIM:616794
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 28
gene_symbol: NCF4
disease_id: OMIM:613960
disease_name: GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 3
gene_symbol: UQCRH
disease_id: OMIM:620137
disease_name: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 11
gene_symbol: GHSR
disease_id: ORPHA:314811
disease_name: Short stature due to GHSR deficiency
Ghrelin receptor deficiency
Short stature due to growth hormone secretagogue receptor deficiency
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
gene_symbol: PNPT1
disease_id: ORPHA:101111
disease_name: Spinocerebellar ataxia type 25
SCA25
gene_symbol: CDC73
disease_id: ORPHA:99880
disease_name: Hyperparathyroidism-jaw tumor syndrome
HPT-JT
gene_symbol: CDC73
disease_id: ORPHA:143
disease_name: Parathyroid carcinoma
gene_symbol: DLST
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MDH2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHA
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: FH
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SLC25A11
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: SDHAF2
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: TMEM127
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: NF1
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: MAX
disease_id: ORPHA:29072
disease_name: Hereditary pheochromocytoma-paraganglioma
Familial pheochromocytoma-paraganglioma
gene_symbol: DNMT3A
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: EPAS1
disease_id: ORPHA:276621
disease_name: Sporadic pheochromocytoma/secreting paraganglioma
gene_symbol: GNE
disease_id: ORPHA:3166
disease_name: Sialuria
Sialuria, French type
gene_symbol: CPT2
disease_id: ORPHA:228305
disease_name: Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
gene_symbol: LPL
disease_id: OMIM:238600
disease_name: HYPERLIPOPROTEINEMIA, TYPE I
gene_symbol: PIGA
disease_id: ORPHA:447
disease_name: Paroxysmal nocturnal hemoglobinuria
Marchiafava-Micheli disease
PNH
gene_symbol: ESR1
disease_id: ORPHA:785
disease_name: Estrogen resistance syndrome
gene_symbol: MRAP
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: STAR
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: MC2R
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: NNT
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: TXNRD2
disease_id: ORPHA:361
disease_name: Familial glucocorticoid deficiency
gene_symbol: ATRX
disease_id: ORPHA:100075
disease_name: Neuroendocrine tumor of stomach
GNET
Gastric NET
Gastric neuroendocrine tumor
NET of stomach
gene_symbol: HEXB
disease_id: OMIM:268800
disease_name: SANDHOFF DISEASE
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: F12
disease_id: OMIM:610618
disease_name: ANGIOEDEMA, HEREDITARY, TYPE III
gene_symbol: DGAT1
disease_id: OMIM:615863
disease_name: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE
gene_symbol: MNX1
disease_id: ORPHA:1552
disease_name: Currarino syndrome
Currarino triad
gene_symbol: COL4A6
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome
gene_symbol: COL4A5
disease_id: ORPHA:1018
disease_name: X-linked Alport syndrome-diffuse leiomyomatosis
Xq22.3 microdeletion syndrome