×
Entrez Id: 79827
Gene Symbol: CLMP
CLMP
0.100
Biomarker
disease
HPO
×
Entrez Id: 841
Gene Symbol: CASP8
CASP8
0.100
Biomarker
disease
HPO
×
Entrez Id: 3551
Gene Symbol: IKBKB
IKBKB
0.100
Biomarker
disease
HPO
×
Entrez Id: 5317
Gene Symbol: PKP1
PKP1
0.100
Biomarker
disease
HPO
×
Entrez Id: 4683
Gene Symbol: NBN
NBN
0.100
Biomarker
disease
HPO
×
Entrez Id: 6651
Gene Symbol: SON
SON
0.100
Biomarker
disease
HPO
×
Entrez Id: 6523
Gene Symbol: SLC5A1
SLC5A1
0.100
Biomarker
disease
HPO
×
Entrez Id: 6555
Gene Symbol: SLC10A2
SLC10A2
0.100
Biomarker
disease
HPO
×
Entrez Id: 7535
Gene Symbol: ZAP70
ZAP70
0.100
Biomarker
disease
HPO
×
Entrez Id: 7015
Gene Symbol: TERT
TERT
0.100
Biomarker
disease
HPO
×
Entrez Id: 3559
Gene Symbol: IL2RA
IL2RA
0.100
Biomarker
disease
HPO
×
Entrez Id: 6023
Gene Symbol: RMRP
RMRP
0.100
Biomarker
disease
HPO
×
Entrez Id: 7456
Gene Symbol: WIPF1
WIPF1
0.100
Biomarker
disease
HPO
×
Entrez Id: 5528
Gene Symbol: PPP2R5D
PPP2R5D
0.100
Biomarker
disease
HPO
×
Entrez Id: 3425
Gene Symbol: IDUA
IDUA
0.100
Biomarker
disease
HPO
×
Entrez Id: 538
Gene Symbol: ATP7A
ATP7A
0.100
Biomarker
disease
HPO
×
Entrez Id: 54888
Gene Symbol: NSUN2
NSUN2
0.100
Biomarker
disease
HPO
×
Entrez Id: 567
Gene Symbol: B2M
B2M
0.100
Biomarker
disease
HPO
×
Entrez Id: 4669
Gene Symbol: NAGLU
NAGLU
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id: 6288
Gene Symbol: SAA1
SAA1
0.100
Biomarker
disease
HPO
×
Entrez Id: 1593
Gene Symbol: CYP27A1
CYP27A1
0.100
CausalMutation
disease
CLINVAR
×
Entrez Id: 118429
Gene Symbol: ANTXR2
ANTXR2
0.100
Biomarker
disease
HPO
×
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010
GeneticVariation
disease
BEFREE
78 % experienced non-infectious complications: chronic diarrhea (n = 22), aphthous ulcers (n = 28), and neoplasms (n = 8) including colon cancer, adrenal adenoma, liver adenocarcinoma, pancreatic carcinoid, acute myeloid leukemia, hepatoma, and, in a female with an autosomal dominant gain of function mutation in PIK3CD , an ovarian dysgerminoma.
27189378 2016
×
Entrez Id: 5205
Gene Symbol: ATP8B1
ATP8B1
0.010
Biomarker
disease
BEFREE
PFIC1 , originally described as "Byler disease," is characterized by cholestatic feature and chronic diarrhea .18785905 2009
×
Entrez Id: 51128
Gene Symbol: SAR1B
SAR1B
0.010
Biomarker
disease
BEFREE
Anderson disease (and/or chylomicron retention disease-CMRD ) is a rare, autosomic recessive disorder characterized by chronic diarrhea , failure to thrive, and hypocholesterolemia in childhood.
17945526 2008