Term: Enterocolitis
Accession: HP:0004387
browse the term
Definition: An inflammation of the colon and small intestine. However, most conditions are either categorized as Enteritis (inflammation of the small intestine) or Colitis (inflammation of the large intestine).
Synonyms: xref: EFO:1001481 ; SNOMEDCT_US:43752006; UMLS:C0014356
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ABCD1
ATP binding cassette subfamily D member 1
IAGP
HPO
ORPHA:388
NCBI chr X:153,724,856...153,744,755
Ensembl chr X:153,724,856...153,744,755
G
ATP7A
ATPase copper transporting alpha
IAGP
HPO
ORPHA:388
NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395
G
DKC1
dyskerin pseudouridine synthase 1
IAGP
HPO
MIM:301108
NCBI chr X:154,762,864...154,777,689
Ensembl chr X:154,762,742...154,777,689
G
ECE1
endothelin converting enzyme 1
IAGP
HPO
ORPHA:388
NCBI chr 1:21,217,250...21,345,504
Ensembl chr 1:21,217,247...21,345,572
G
EDN3
endothelin 3
IAGP
HPO
ORPHA:388
NCBI chr20:59,300,611...59,325,992
Ensembl chr20:59,300,443...59,325,992
G
EDNRB
endothelin receptor type B
IAGP
HPO
ORPHA:388
NCBI chr13:77,895,487...77,975,527
Ensembl chr13:77,895,481...77,975,529
G
ELANE
elastase, neutrophil expressed
IAGP
HPO
ORPHA:2686
NCBI chr19:852,303...856,243
Ensembl chr19:851,014...856,247
G
ERBB2
erb-b2 receptor tyrosine kinase 2
IAGP
HPO
ORPHA:388
NCBI chr17:39,688,094...39,728,658
Ensembl chr17:39,687,914...39,730,426
G
ERBB3
erb-b2 receptor tyrosine kinase 3
IAGP
HPO
ORPHA:388
NCBI chr12:56,080,108...56,103,505
Ensembl chr12:56,076,799...56,103,505
G
GDNF
glial cell derived neurotrophic factor
IAGP
HPO
ORPHA:388
NCBI chr 5:37,812,677...37,840,041
Ensembl chr 5:37,812,677...37,840,041
G
IL10RA
interleukin 10 receptor subunit alpha
IAGP
HPO
MIM:613148
NCBI chr11:117,986,394...118,003,037
Ensembl chr11:117,986,370...118,003,037
G
IL10RB
interleukin 10 receptor subunit beta
IAGP
HPO
MIM:612567
NCBI chr21:33,266,367...33,310,182
Ensembl chr21:33,266,367...33,311,420
G
NLRC4
NLR family CARD domain containing 4
IAGP
HPO
MIM:616050
NCBI chr 2:32,224,449...32,265,743
Ensembl chr 2:32,224,453...32,265,732
G
NOP10
NOP10 ribonucleoprotein
IAGP
HPO
MIM:620425
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
G
NRTN
neurturin
IAGP
HPO
ORPHA:388
NCBI chr19:5,805,067...5,828,324
Ensembl chr19:5,805,067...5,828,324
G
OPLAH
5-oxoprolinase, ATP-hydrolysing
IAGP
HPO
MIM:260005
NCBI chr 8:144,050,322...144,063,961
Ensembl chr 8:144,051,266...144,063,965
G
PIK3CG
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma
IAGP
HPO
MIM:619802
NCBI chr 7:106,865,282...106,908,980
Ensembl chr 7:106,865,278...106,908,980
G
PLCG2
phospholipase C gamma 2
IAGP
HPO
MIM:614878
NCBI chr16:81,739,041...81,962,685
Ensembl chr16:81,738,248...81,962,685
G
RET
ret proto-oncogene
IAGP
HPO
MIM:142623 ORPHA:388
NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351
G
SEMA3C
semaphorin 3C
IAGP
HPO
ORPHA:388
NCBI chr 7:80,742,538...80,922,389
Ensembl chr 7:80,742,538...80,922,359
G
SEMA3D
semaphorin 3D
IAGP
HPO
ORPHA:388
NCBI chr 7:84,995,553...85,250,243
Ensembl chr 7:84,995,553...85,187,056
G
SLC37A4
solute carrier family 37 member 4
IAGP
HPO
ORPHA:79259
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
G
SMO
smoothened, frizzled class receptor
IAGP
HPO
ORPHA:388
NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545
G
SREBF1
sterol regulatory element binding transcription factor 1
IAGP
HPO
ORPHA:388
NCBI chr17:17,811,334...17,836,986
Ensembl chr17:17,810,399...17,837,002
G
STAT1
signal transducer and activator of transcription 1
IAGP
HPO
ORPHA:391487
NCBI chr 2:190,969,149...191,014,171
Ensembl chr 2:190,908,460...191,020,960
G
TTC7A
tetratricopeptide repeat domain 7A
IAGP
HPO
MIM:243150
NCBI chr 2:46,915,866...47,076,123
Ensembl chr 2:46,915,869...47,076,137
Symbol
Object Name
Evidence
Notes
Source
PubMed Reference(s)
RGD Reference(s)
Position
G
ACADVL
acyl-CoA dehydrogenase very long chain
IAGP
HPO
MIM:201475
NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
G
DEF6
DEF6 guanine nucleotide exchange factor
IAGP
HPO
MIM:619573
NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771
G
FCN3
ficolin 3
IAGP
HPO
MIM:613860
NCBI chr 1:27,369,110...27,374,824
Ensembl chr 1:27,369,110...27,374,824
G
FH
fumarate hydratase
IAGP
HPO
MIM:606812
NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799
G
MYH11
myosin heavy chain 11
IAGP
HPO
MIM:619350
NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438
G
PIGY
phosphatidylinositol glycan anchor biosynthesis class Y
IAGP
HPO
MIM:616809
NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776
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