HFE2A
MCID: HMC021
MIFTS: 41

Hemochromatosis, Type 2a (HFE2A)

Categories: Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hemochromatosis, Type 2a

MalaCards integrated aliases for Hemochromatosis, Type 2a:

Name: Hemochromatosis, Type 2a 57 13 70
Hemochromatosis Type 2a 12 29 6 15
Hfe2a 57 12 72
Juvenile Hemochromatosis 72 70
Hemochromatosis Type 2 72
Hemochromatosis 2a 72
Hefe2 72
Jh 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset is usually before age 30


HPO:

31
hemochromatosis, type 2a:
Inheritance autosomal recessive inheritance
Onset and clinical course young adult onset


Classifications:



Summaries for Hemochromatosis, Type 2a

OMIM® : 57 Juvenile, or type 2, hemochromatosis is an autosomal recessive inborn error of iron metabolism that leads to severe iron loading and organ failure before 30 years of age. The common complications of iron overload, including liver cirrhosis, cardiac disease, endocrine failure, diabetes, arthropathy, and skin pigmentation, are similar to those of adult-onset hereditary hemochromatosis, but hypogonadism and cardiomyopathy are the most common symptoms at presentation. Heart failure and/or major arrhythmias are usually the cause of death in the absence of treatment. Early detection of the disorder is important because iron depletion by phlebotomy can prevent organ damage and all disease manifestations (summary by Roetto et al., 1999). (602390) (Updated 05-Apr-2021)

MalaCards based summary : Hemochromatosis, Type 2a, also known as hemochromatosis type 2a, is related to hemochromatosis, type 3 and hemochromatosis, type 4, and has symptoms including lethargy and weakness. An important gene associated with Hemochromatosis, Type 2a is HJV (Hemojuvelin BMP Co-Receptor), and among its related pathways/superpathways are TGF-beta signaling pathway (KEGG) and Hfe effect on hepcidin production. Affiliated tissues include heart, and related phenotypes are hepatomegaly and cirrhosis

Disease Ontology : 12 A hemochromatosis type 2 that has material basis in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21.

UniProtKB/Swiss-Prot : 72 Hemochromatosis 2A: A juvenile form of hemochromatosis, a disorder of iron metabolism with excess deposition of iron in a variety of organs leading to their failure, bronze skin pigmentation, hepatic cirrhosis, arthropathy and diabetes. The most common symptoms of juvenile hemochromatosis at presentation are hypogonadism and cardiomyopathy.

Related Diseases for Hemochromatosis, Type 2a

Diseases in the Rare Hereditary Hemochromatosis family:

Hemochromatosis, Type 1 Hemochromatosis, Type 2a
Hemochromatosis, Type 3 Hemochromatosis, Type 4
Hemochromatosis, Type 2b Hemochromatosis, Type 5
Hemochromatosis Type 2 Tfr2-Related Hereditary Hemochromatosis

Diseases related to Hemochromatosis, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 72)
# Related Disease Score Top Affiliating Genes
1 hemochromatosis, type 3 31.9 HJV HAMP
2 hemochromatosis, type 4 31.9 HJV HAMP
3 rare hereditary hemochromatosis 31.2 HJV HAMP
4 hemosiderosis 31.1 HJV HAMP
5 iron metabolism disease 30.3 HJV HAMP
6 arthropathy 30.2 HJV HAMP
7 hemochromatosis type 2 30.1 HJV HAMP
8 hemochromatosis, neonatal 11.1
9 hemochromatosis, type 5 11.1
10 hemochromatosis, type 2b 11.0
11 hypogonadism 10.5
12 autosomal recessive disease 10.4
13 hypogonadotropic hypogonadism 10.3
14 liver cirrhosis 10.2
15 iron overload in africa 10.2 HJV HAMP
16 atransferrinemia 10.2 HJV HAMP
17 hyperferritinemia with or without cataract 10.2 HJV HAMP
18 hypochromic microcytic anemia 10.2 HJV HAMP
19 microcytic anemia 10.2 HJV HAMP
20 anemia, congenital dyserythropoietic, type ia 10.1 HJV HAMP
21 amenorrhea 10.1
22 congestive heart failure 10.1
23 metal metabolism disorder 10.1 HJV HAMP
24 iron deficiency anemia 10.1 HJV HAMP
25 nutritional deficiency disease 10.1 HJV HAMP
26 anemia, sideroblastic, 1 10.1 HJV HAMP
27 dowling-degos disease 1 10.1
28 porphyria cutanea tarda 10.1 HJV HAMP
29 porphyria 10.1 HJV HAMP
30 hemoglobinopathy 10.0 HJV HAMP
31 atrial standstill 1 10.0
32 impotence 10.0
33 tfr2-related hereditary hemochromatosis 10.0
34 thalassemia 10.0
35 hemochromatosis, type 1 9.9
36 hypothyroidism, congenital, nongoitrous, 1 9.9 GPR89B GPR89A
37 aceruloplasminemia 9.9 HJV HAMP
38 thrombocytopenia-absent radius syndrome 9.9 GPR89B GPR89A
39 brooke-spiegler syndrome 9.9 GPR89B GPR89A
40 hepatocellular carcinoma 9.8
41 hashimoto thyroiditis 9.8
42 osteoporosis 9.8
43 bone mineral density quantitative trait locus 8 9.8
44 diabetes mellitus, ketosis-prone 9.8
45 bone mineral density quantitative trait locus 15 9.8
46 beta-thalassemia 9.8
47 deficiency anemia 9.8
48 bone resorption disease 9.8
49 non-alcoholic steatohepatitis 9.8
50 siderosis 9.8

Graphical network of the top 20 diseases related to Hemochromatosis, Type 2a:



Diseases related to Hemochromatosis, Type 2a

Symptoms & Phenotypes for Hemochromatosis, Type 2a

Human phenotypes related to Hemochromatosis, Type 2a:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 hepatomegaly 31 very rare (1%) HP:0002240
2 cirrhosis 31 very rare (1%) HP:0001394
3 cardiomyopathy 31 very rare (1%) HP:0001638
4 increased serum iron 31 very rare (1%) HP:0003452
5 hypogonadotropic hypogonadism 31 very rare (1%) HP:0000044
6 increased circulating ferritin concentration 31 very rare (1%) HP:0003281
7 splenomegaly 31 HP:0001744
8 arthritis 31 HP:0001369
9 congestive heart failure 31 HP:0001635
10 dilated cardiomyopathy 31 HP:0001644
11 arrhythmia 31 HP:0011675
12 azoospermia 31 HP:0000027
13 infertility 31 HP:0000789
14 lethargy 31 HP:0001254
15 amenorrhea 31 HP:0000141
16 hyperpigmentation of the skin 31 HP:0000953

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Skeletal:
arthritis

Genitourinary Internal Genitalia Male:
azoospermia
infertility

Genitourinary External Genitalia Male:
hypogonadism

Laboratory Abnormalities:
increased serum ferritin
increased serum iron
increased transferrin saturation
increased transaminase values

Muscle Soft Tissue:
weakness

Abdomen Liver:
hepatomegaly
cirrhosis
fibrosis

Cardiovascular Heart:
arrhythmia
heart failure
cardiomyopathy, dilated

Neurologic Behavioral Psychiatric Manifestations:
lethargy

Genitourinary External Genitalia Female:
hypogonadism

Genitourinary Internal Genitalia Female:
amenorrhea

Skin Nails Hair Skin:
hyperpigmentation

Clinical features from OMIM®:

602390 (Updated 05-Apr-2021)

UMLS symptoms related to Hemochromatosis, Type 2a:


lethargy; weakness

Drugs & Therapeutics for Hemochromatosis, Type 2a

Search Clinical Trials , NIH Clinical Center for Hemochromatosis, Type 2a

Genetic Tests for Hemochromatosis, Type 2a

Genetic tests related to Hemochromatosis, Type 2a:

# Genetic test Affiliating Genes
1 Hemochromatosis Type 2a 29 HJV

Anatomical Context for Hemochromatosis, Type 2a

MalaCards organs/tissues related to Hemochromatosis, Type 2a:

40
Heart

Publications for Hemochromatosis, Type 2a

Articles related to Hemochromatosis, Type 2a:

(show all 29)
# Title Authors PMID Year
1
Juvenile hemochromatosis due to homozygosity for the G320V mutation in the HJV gene with fatal outcome. 6 57
19796184 2009
2
Early age-of-onset iron overload and homozygosity for the novel hemojuvelin mutation HJV R54X (exon 3; c.160A-->T) in an African American male of West Indies descent. 6 57
18492090 2008
3
HJV gene mutations in European patients with juvenile hemochromatosis. 6 57
15811010 2005
4
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis. 57 6
14982873 2004
5
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. 57 6
14647275 2004
6
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population. 57 6
12891378 2003
7
Molecular diagnostic and pathogenesis of hereditary hemochromatosis. 6
22408404 2012
8
Juvenile hemochromatosis caused by a novel combination of hemojuvelin G320V/R176C mutations in a 5-year old girl. 6
17339196 2007
9
Allele frequencies of hemojuvelin gene (HJV) I222N and G320V missense mutations in white and African American subjects from the general Alabama population. 6
15610558 2004
10
Identification of a novel mutation (C321X) in HJV. 6
15138164 2004
11
Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. 6
15461631 2004
12
The recently identified type 2A juvenile haemochromatosis gene (HJV), a second candidate modifier of the C282Y homozygous phenotype. 6
15254010 2004
13
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. 6
14982867 2004
14
Genetic heterogeneity underlies juvenile hemochromatosis phenotype: analysis of three families of northern Greek origin. 57
12490283 2002
15
Juvenile hemochromatosis in the southeastern United States: a report of seven cases in two kinships. 6
12482411 2002
16
Natural history of juvenile haemochromatosis. 57
12060140 2002
17
Juvenile hemochromatosis locus maps to chromosome 1q. 57
10205270 1999
18
Juvenile genetic hemochromatosis is clinically and genetically distinct from the classical HLA-related disorder. 57
9763590 1998
19
Hereditary juvenile haemochromatosis: a genetically heterogeneous life-threatening iron-storage disease. 57
10024915 1998
20
Juvenile and adult hemochromatosis are distinct genetic disorders. 57
9450181 1997
21
Hereditary hemochromatosis in children, adolescents, and young adults. 57
3056060 1988
22
Juvenile idiopathic haemochromatosis: a life-threatening disorder presenting as hypogonadotropic hypogonadism. 57
6418636 1983
23
Idiopathic hemochromatosis in a young female. A case study and review of the syndrome in young people. 57
758139 1979
24
Hemochromatosis in two young sisters. Case studies and a family survey. 57
6028643 1967
25
Idiopathic hemochromatosis in young subjects. Clinical, pathological, and chemical findings in four patients. 57
6019566 1967
26
IDIOPATHIC HAEMOCHROMATOSIS IN CHILDREN; REPORT OF A FAMILY. 57
14314226 1965
27
Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism. 61
32327622 2020
28
Molecular evolution of hemojuvelin and the repulsive guidance molecule family. 61
17593421 2007
29
Gene symbol: HFE2a (HJV). Disease: juvenile hemochromatosis. 61
16521298 2005

Variations for Hemochromatosis, Type 2a

ClinVar genetic disease variations for Hemochromatosis, Type 2a:

6 (show top 50) (show all 71)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HJV NM_213653.3(HJV):c.665T>A (p.Ile222Asn) SNV Pathogenic 2367 rs74315325 GRCh37: 1:145416320-145416320
GRCh38: 1:146018693-146018693
2 HJV NM_145277.5(HJV):c.-102T>C SNV Pathogenic 2369 rs28940586 GRCh37: 1:145415419-145415419
GRCh38: 1:146019594-146019594
3 HJV NM_145277.5(HJV):c.624C>A (p.Cys208Ter) SNV Pathogenic 2371 rs121434374 GRCh37: 1:145416618-145416618
GRCh38: 1:146018395-146018395
4 HJV NM_145277.5(HJV):c.641_642TC[1] (p.Ser215fs) Microsatellite Pathogenic 2372 rs786205063 GRCh37: 1:145416634-145416637
GRCh38: 1:146018373-146018376
5 HJV NM_145277.5(HJV):c.-180A>T SNV Pathogenic 2373 rs121434375 GRCh37: 1:145415341-145415341
GRCh38: 1:146019672-146019672
6 HJV NC_000001.10:g.(?_145414693)_(145417545_?)del Deletion Pathogenic 417403 GRCh37: 1:145414693-145417545
GRCh38:
7 HJV NM_213653.3(HJV):c.1006G>T (p.Gly336Ter) SNV Pathogenic 560162 rs1553769428 GRCh37: 1:145416661-145416661
GRCh38: 1:146018352-146018352
8 HJV NM_145277.5(HJV):c.358del (p.Gln120fs) Deletion Pathogenic 590920 rs1559279177 GRCh37: 1:145416352-145416352
GRCh38: 1:146018661-146018661
9 HJV NM_213653.3(HJV):c.959G>T (p.Gly320Val) SNV Pathogenic 2365 rs74315323 GRCh37: 1:145416614-145416614
GRCh38: 1:146018399-146018399
10 HJV NM_145277.5(HJV):c.503T>C (p.Ile168Thr) SNV Pathogenic 2368 rs74315326 GRCh37: 1:145416497-145416497
GRCh38: 1:146018516-146018516
11 overlap with 4 genes NC_000001.10:g.(?_145414782)_(145474819_?)del Deletion Pathogenic 583553 GRCh37: 1:145414782-145474819
GRCh38:
12 HJV NM_145277.5(HJV):c.-38T>C SNV Pathogenic 2370 rs74315327 GRCh37: 1:145415483-145415483
GRCh38: 1:146019530-146019530
13 HJV NM_213653.4(HJV):c.-89-1G>C SNV Pathogenic 1031845 GRCh37: 1:145414692-145414692
GRCh38: 1:146020321-146020321
14 HJV NM_213653.3(HJV):c.238T>G (p.Cys80Gly) SNV Likely pathogenic 216012 rs28940586 GRCh37: 1:145415419-145415419
GRCh38: 1:146019594-146019594
15 HJV NM_213653.3(HJV):c.497A>G (p.His166Arg) SNV Conflicting interpretations of pathogenicity 545472 rs1553769663 GRCh37: 1:145415678-145415678
GRCh38: 1:146019335-146019335
16 HJV NM_213653.3(HJV):c.749G>T (p.Gly250Val) SNV Uncertain significance 216847 rs863224819 GRCh37: 1:145416404-145416404
GRCh38: 1:146018609-146018609
17 HJV NM_213653.3(HJV):c.1264T>C (p.Trp422Arg) SNV Uncertain significance 216846 rs863224818 GRCh37: 1:145416919-145416919
GRCh38: 1:146018094-146018094
18 overlap with 4 genes NC_000001.10:g.(?_145414782)_(145474819_?)dup Duplication Uncertain significance 583737 GRCh37: 1:145414782-145474819
GRCh38:
19 HJV NM_213653.3(HJV):c.432C>G (p.Ala144=) SNV Uncertain significance 536406 rs139401358 GRCh37: 1:145415613-145415613
GRCh38: 1:146019400-146019400
20 HJV NM_213653.3(HJV):c.904G>A (p.Glu302Lys) SNV Uncertain significance 658524 rs143496559 GRCh37: 1:145416559-145416559
GRCh38: 1:146018454-146018454
21 HJV NM_213653.4(HJV):c.977G>A (p.Arg326Gln) SNV Uncertain significance 874084 GRCh37: 1:145416632-145416632
GRCh38: 1:146018381-146018381
22 HJV NM_213653.4(HJV):c.994C>T (p.Arg332Cys) SNV Uncertain significance 874085 GRCh37: 1:145416649-145416649
GRCh38: 1:146018364-146018364
23 HJV NM_213653.3(HJV):c.1004G>A (p.Arg335Gln) SNV Uncertain significance 664777 rs377109351 GRCh37: 1:145416659-145416659
GRCh38: 1:146018354-146018354
24 HJV NM_213653.4(HJV):c.1084G>A (p.Val362Ile) SNV Uncertain significance 874086 GRCh37: 1:145416739-145416739
GRCh38: 1:146018274-146018274
25 HJV NM_213653.4(HJV):c.170G>A (p.Gly57Asp) SNV Uncertain significance 874964 GRCh37: 1:145415351-145415351
GRCh38: 1:146019662-146019662
26 HJV NM_213653.4(HJV):c.*190G>A SNV Uncertain significance 875016 GRCh37: 1:145417126-145417126
GRCh38: 1:146017887-146017887
27 HJV NM_213653.4(HJV):c.*197G>A SNV Uncertain significance 875017 GRCh37: 1:145417133-145417133
GRCh38: 1:146017880-146017880
28 HJV NM_213653.4(HJV):c.*198G>A SNV Uncertain significance 875018 GRCh37: 1:145417134-145417134
GRCh38: 1:146017879-146017879
29 HJV NM_213653.4(HJV):c.*372A>G SNV Uncertain significance 875019 GRCh37: 1:145417308-145417308
GRCh38: 1:146017705-146017705
30 HJV NM_213653.4(HJV):c.*574A>T SNV Uncertain significance 875020 GRCh37: 1:145417510-145417510
GRCh38: 1:146017503-146017503
31 HJV NM_213653.4(HJV):c.510C>T (p.Phe170=) SNV Uncertain significance 875889 GRCh37: 1:145415691-145415691
GRCh38: 1:146019322-146019322
32 HJV NM_213653.4(HJV):c.597C>T (p.Leu199=) SNV Uncertain significance 875890 GRCh37: 1:145415778-145415778
GRCh38: 1:146019235-146019235
33 HJV NM_213653.4(HJV):c.780A>G (p.Gly260=) SNV Uncertain significance 876886 GRCh37: 1:145416435-145416435
GRCh38: 1:146018578-146018578
34 HJV NM_213653.3(HJV):c.792G>C (p.Ser264=) SNV Uncertain significance 536407 rs35710964 GRCh37: 1:145416447-145416447
GRCh38: 1:146018566-146018566
35 HJV NM_213653.4(HJV):c.819T>C (p.His273=) SNV Uncertain significance 876887 GRCh37: 1:145416474-145416474
GRCh38: 1:146018539-146018539
36 HJV NM_213653.4(HJV):c.841A>T (p.Ile281Phe) SNV Uncertain significance 876888 GRCh37: 1:145416496-145416496
GRCh38: 1:146018517-146018517
37 HJV NM_213653.4(HJV):c.885C>T (p.Ser295=) SNV Uncertain significance 876889 GRCh37: 1:145416540-145416540
GRCh38: 1:146018473-146018473
38 HJV NM_213653.3(HJV):c.1113C>T (p.Pro371=) SNV Uncertain significance 292432 rs886045239 GRCh37: 1:145416768-145416768
GRCh38: 1:146018245-146018245
39 HJV NM_213653.3(HJV):c.522T>C (p.His174=) SNV Uncertain significance 292426 rs587646422 GRCh37: 1:145415703-145415703
GRCh38: 1:146019310-146019310
40 HJV NM_213653.3(HJV):c.-203C>T SNV Uncertain significance 292416 rs781908480 GRCh37: 1:145413313-145413313
GRCh38: 1:146021700-146021700
41 HJV NM_213653.3(HJV):c.*288A>C SNV Uncertain significance 292435 rs886045241 GRCh37: 1:145417224-145417224
GRCh38: 1:146017789-146017789
42 HJV NM_213653.3(HJV):c.201A>C (p.Gly67=) SNV Uncertain significance 292421 rs782445206 GRCh37: 1:145415382-145415382
GRCh38: 1:146019631-146019631
43 HJV NM_213653.3(HJV):c.409G>A (p.Gly137Ser) SNV Uncertain significance 292424 rs587719388 GRCh37: 1:145415590-145415590
GRCh38: 1:146019423-146019423
44 HAMP NM_021175.3(HAMP):c.-67G>C SNV Uncertain significance 328835 rs886054342 GRCh37: 19:35773414-35773414
GRCh38: 19:35282511-35282511
45 HJV NM_213653.3(HJV):c.559G>T (p.Val187Phe) SNV Uncertain significance 292427 rs886045238 GRCh37: 1:145415740-145415740
GRCh38: 1:146019273-146019273
46 HJV NM_145277.5(HJV):c.361_363del (p.Lys121del) Deletion Uncertain significance 639262 rs1553769521 GRCh37: 1:145416353-145416355
GRCh38: 1:146018656-146018658
47 HJV NM_213653.3(HJV):c.442T>A (p.Cys148Ser) SNV Uncertain significance 662092 rs782741141 GRCh37: 1:145415623-145415623
GRCh38: 1:146019390-146019390
48 HJV NC_000001.11:g.146021819C>T SNV Uncertain significance 874028 GRCh37: 1:145413194-145413194
GRCh38: 1:146021819-146021819
49 HJV NC_000001.11:g.146021778A>G SNV Uncertain significance 874029 GRCh37: 1:145413235-145413235
GRCh38: 1:146021778-146021778
50 HJV NC_000001.11:g.146021740G>A SNV Uncertain significance 874030 GRCh37: 1:145413273-145413273
GRCh38: 1:146021740-146021740

UniProtKB/Swiss-Prot genetic disease variations for Hemochromatosis, Type 2a:

72 (show all 14)
# Symbol AA change Variation ID SNP ID
1 HJV p.Cys80Arg VAR_019617 rs28940586
2 HJV p.Ser85Pro VAR_019618 rs155376975
3 HJV p.Gly99Arg VAR_019619 rs155376974
4 HJV p.Leu101Pro VAR_019620 rs74315327
5 HJV p.Ala168Asp VAR_019621 rs782125244
6 HJV p.Phe170Ser VAR_019622 rs155376965
7 HJV p.Asp172Glu VAR_019623 rs782708481
8 HJV p.Trp191Cys VAR_019624 rs155376963
9 HJV p.Ser205Arg VAR_019625 rs155376962
10 HJV p.Ile222Asn VAR_019626 rs74315325
11 HJV p.Gly250Val VAR_019627 rs863224819
12 HJV p.Arg288Trp VAR_019628 rs782493762
13 HJV p.Gly320Val VAR_019629 rs74315323
14 HJV p.Cys321Trp VAR_019927 rs121434374

Expression for Hemochromatosis, Type 2a

Search GEO for disease gene expression data for Hemochromatosis, Type 2a.

Pathways for Hemochromatosis, Type 2a

Pathways related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.93 HJV HAMP
2 9.47 HJV HAMP

GO Terms for Hemochromatosis, Type 2a

Cellular components related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi cisterna membrane GO:0032580 8.62 GPR89B GPR89A

Biological processes related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.32 HJV HAMP
2 T cell differentiation GO:0030217 9.26 GPR89B GPR89A
3 iron ion homeostasis GO:0055072 9.16 HJV HAMP
4 inorganic anion transport GO:0015698 8.96 GPR89B GPR89A
5 intracellular pH reduction GO:0051452 8.62 GPR89B GPR89A

Molecular functions related to Hemochromatosis, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated anion channel activity GO:0008308 8.62 GPR89B GPR89A

Sources for Hemochromatosis, Type 2a

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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