Glycogen Storage Disease Ixa1 (GSD9A1)

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases

Aliases & Classifications for Glycogen Storage Disease Ixa1

MalaCards integrated aliases for Glycogen Storage Disease Ixa1:

Name: Glycogen Storage Disease Ixa1 57 72 70
Glycogen Storage Disease, Type Ixa1 57 13
Glycogen Storage Disease, Type Ixa2 57 70
Glycogen Storage Disease Type Ixa1 29 6
Glycogen Storage Disease Ixa2 72 6
Gsd9a1 57 72
Liver Glycogenosis, X-Linked, Type I; Xlg1 57
Glycogen Storage Disease Viii, Formerly 57
Hepatic Phosphorylase Kinase Deficiency 72
Liver Glycogenosis, X-Linked, Type I 57
Storage Disease, Glycogen, Type Ixa1 39
X-Linked Liver Glycogenosis Type Ii 72
Gsd Viii, Formerly; Gsd8, Formerly 57
Glycogen Storage Disease Type Viii 70
X-Linked Liver Glycogenosis Type I 72
Glycogen Storage Disease, Type Ix 70
Glycogen Storage Disease Viii 72
Glycogen Storage Disease Ixa 72
Glycogen Storage Disease Via 72
Glycogen Storage Disease 9a 72
X-Linked Liver Glycogenosis 72
Gsd Viii, Formerly 57
Gsd8, Formerly 57
Gsd-Viii 72
Gsd-Ixa 72
Gsd-Via 72
Gsd9a2 72
Gsd9a 72
Xlg1 57
Xlg 72



57 (Updated 05-Apr-2021)
x-linked recessive

clinical and biochemical abnormalities disappear with age


glycogen storage disease ixa1:
Inheritance x-linked recessive inheritance


Summaries for Glycogen Storage Disease Ixa1

OMIM® : 57 Glycogen storage disease type IX is a metabolic disorder resulting from a deficiency of hepatic phosphorylase kinase, a hexadecameric enzyme comprising 4 copies each of 4 unique subunits encoded by 4 different genes: alpha (PHKA2), beta (PHKB; 172490), gamma (PHKG2; 172471), and delta (CALM1; 114180). Mutations within the PHKA2, PHKB, and PHKG2 genes result in GSD9A, GSD9B (261750), and GSD9C (613027), respectively. GSD IXa is an X-linked recessive disorder, whereas the others are autosomal recessive. GSD IXa has been further divided into types IXa1 (GSD9A1), with no PHK activity in liver or erythrocytes, and IXa2 (GSD9A2), with no PHK in liver, but normal activity in erythrocytes. The clinical presentation of both subtypes is the same, and both are caused by mutations in the PHKA2 gene. However, mutations that result in IXa2 are either missense or small in-frame deletions or insertions enabling residual enzyme expression in erythrocytes (Keating et al., 1985; Hendrickx et al., 1994; Beauchamp et al., 2007). See also X-linked muscle PHK deficiency (GSD9D; 300559), caused by mutation in the gene encoding the muscle-specific alpha PHK subunit (PHKA1; 311870). (306000) (Updated 05-Apr-2021)

MalaCards based summary : Glycogen Storage Disease Ixa1, also known as glycogen storage disease, type ixa1, is related to glycogen storage disease ixa and glycogen storage disease. An important gene associated with Glycogen Storage Disease Ixa1 is PHKA2 (Phosphorylase Kinase Regulatory Subunit Alpha 2). Affiliated tissues include liver, and related phenotypes are hypoglycemia and hepatomegaly

UniProtKB/Swiss-Prot : 72 Glycogen storage disease 9A: A metabolic disorder resulting in a mild liver glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type with no phosphorylase kinase activity in liver or erythrocytes, and type 2 or variant type with no phosphorylase kinase activity in liver, but normal activity in erythrocytes. Unlike other glycogenosis diseases, glycogen storage disease type 9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.

Related Diseases for Glycogen Storage Disease Ixa1

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ixa1:

Diseases related to Glycogen Storage Disease Ixa1

Symptoms & Phenotypes for Glycogen Storage Disease Ixa1

Human phenotypes related to Glycogen Storage Disease Ixa1:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypoglycemia 31 frequent (33%) HP:0001943
2 hepatomegaly 31 HP:0002240
3 hypertriglyceridemia 31 HP:0002155
4 growth delay 31 HP:0001510
5 elevated hepatic transaminase 31 HP:0002910
6 motor delay 31 HP:0001270
7 hypercholesterolemia 31 HP:0003124
8 ketosis 31 HP:0001946

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Liver:
liver histology reveals glycogen-distended hepatocytes

Laboratory Abnormalities:
variable hypoglycemia
liver phosphorylase kinase (phk) deficiency
phosphorylase kinase normal in muscle
mild elevation of transaminases
mild elevation of cholesterol
Growth Height:
growth retardation
normal final adult height

Neurologic Central Nervous System:
motor developmental delay, mild

Clinical features from OMIM®:

306000 (Updated 05-Apr-2021)

Drugs & Therapeutics for Glycogen Storage Disease Ixa1

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 Clinical and Molecular Evaluations in Glycogen Storage Disease Type IX Recruiting NCT04454216
2 Biomarker for Glycogen Storage Diseases - AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Active, not recruiting NCT02385162

Search NIH Clinical Center for Glycogen Storage Disease Ixa1

Genetic Tests for Glycogen Storage Disease Ixa1

Genetic tests related to Glycogen Storage Disease Ixa1:

# Genetic test Affiliating Genes
1 Glycogen Storage Disease Type Ixa1 29 PHKA2

Anatomical Context for Glycogen Storage Disease Ixa1

MalaCards organs/tissues related to Glycogen Storage Disease Ixa1:


Publications for Glycogen Storage Disease Ixa1

Articles related to Glycogen Storage Disease Ixa1:

(show all 45)
# Title Authors PMID Year
X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. 6 57 61
8733133 1996
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada. 57 6
25266922 2014
Glycogen storage disease type IX: High variability in clinical phenotype. 57 6
17689125 2007
Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. 6 57
10330341 1999
Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. 6 57
9835437 1998
Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. 6 57
9600238 1998
Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). 57 6
8733134 1996
X-linked liver phosphorylase kinase deficiency is associated with mutations in the human liver phosphorylase kinase alpha subunit. 6 57
7847371 1995
Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. 6 57
7711737 1995
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). 57 6
7959740 1994
The natural history of liver glycogenosis due to phosphorylase kinase deficiency: a longitudinal study of 41 patients. 57 6
2303074 1990
X-chromosomal inheritance of liver glycogenosis with phosphorylase kinase deficiency. 6 57
5306139 1969
Benign or not benign? Deep phenotyping of liver Glycogen Storage Disease IX. 57
33317799 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients. 6
31508908 2019
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). 57
30659246 2019
Diagnosing childhood-onset inborn errors of metabolism by next-generation sequencing. 6
28468868 2017
Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa. 6
28627441 2017
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes. 6
28600779 2017
PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. 6
27103379 2016
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children. 6
25070466 2015
X-linked glycogen storage disease IXa manifested in a female carrier due to skewed X chromosome inactivation. 6
24055370 2013
Aggressive therapy improves cirrhosis in glycogen storage disease type IX. 6
23578772 2013
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin. 6
22899091 2013
Common mutation in the PHKA2 gene with variable phenotype in patients with liver phosphorylase b kinase deficiency. 6
21911307 2011
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies. 6
21646031 2011
Phosphorylase Kinase Deficiency 6
21634085 2011
Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. 6
12862311 2003
Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1. 6
9870210 1998
Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. 57
8298647 1993
X-linked liver glycogenosis: localization and isolation of a candidate gene. 57
8518797 1993
Mapping of the gene for X-linked liver glycogenosis due to phosphorylase kinase deficiency to human chromosome region Xp22. 57
1674721 1991
X-linked glycogen storage disease. A cause of hypotonia, hyperuricemia, and growth retardation. 57
3859203 1985
Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency. 57
3987709 1985
X-linked dominant inheritance of partial phosphorylase kinase deficiency in mice. 57
7447922 1980
Dextrothyroxine treatment of phosphorylase-kinase deficiency glycogenosis in four boys. 57
280544 1978
Glycogen storage disease, types I to X: criteria for morphologic diagnosis. 57
4525190 1974
Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X inactivation. 57
4524311 1974
Glycogen storage disease type IX: benign glycogenosis of liver and hepatic phosphorylase kinase deficiency. 57
4518931 1973
Liver glycogenosis and phosphorylase kinase deficiency. 57
5270453 1970
Glycogen-storage disease Type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity. 57
5266383 1970
Phosphorylase kinase deficiency. 57
5444101 1970
Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver. 57
5774108 1969
Hepatic phosphorylase defect. Studies on peripheral blood. 57
5904467 1966
Low leukocyte phosphorylase in hepatic phosphorylase-deficient glycogen storage disease. 57
14007166 1961
[Enzymatic studies of hepatic fragments; application to the classification of glycogenoses]. 57
13646331 1959

Variations for Glycogen Storage Disease Ixa1

ClinVar genetic disease variations for Glycogen Storage Disease Ixa1:

6 (show top 50) (show all 124)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PHKA2 PHKA2, 6-BP INS, NT3331 Insertion Pathogenic 10540 GRCh37:
2 PHKA2 NM_000292.3(PHKA2):c.395A>C (p.His132Pro) SNV Pathogenic 10536 rs137852291 GRCh37: X:18969281-18969281
GRCh38: X:18951163-18951163
3 PHKA2 NM_000292.3(PHKA2):c.750_752del (p.Thr251del) Deletion Pathogenic 10539 rs587776733 GRCh37: X:18959759-18959761
GRCh38: X:18941641-18941643
4 PHKA2 NM_000292.3(PHKA2):c.565A>G (p.Lys189Glu) SNV Pathogenic 10541 rs137852295 GRCh37: X:18963249-18963249
GRCh38: X:18945131-18945131
5 PHKA2 NM_000292.3(PHKA2):c.3025C>T (p.Gln1009Ter) SNV Pathogenic 10527 rs137852285 GRCh37: X:18919605-18919605
GRCh38: X:18901487-18901487
6 PHKA2 NM_000292.3(PHKA2):c.2296C>T (p.Gln766Ter) SNV Pathogenic 10528 rs137852286 GRCh37: X:18926983-18926983
GRCh38: X:18908865-18908865
7 PHKA2 NM_000292.3(PHKA2):c.717+1G>T SNV Pathogenic 10529 rs587776731 GRCh37: X:18961827-18961827
GRCh38: X:18943709-18943709
8 PHKA2 NM_000292.3(PHKA2):c.3146C>A (p.Ser1049Ter) SNV Pathogenic 10530 rs137852287 GRCh37: X:18915417-18915417
GRCh38: X:18897299-18897299
9 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) SNV Pathogenic 10531 rs137852288 GRCh37: X:18911697-18911697
GRCh38: X:18893579-18893579
10 PHKA2 NM_000292.3(PHKA2):c.421_423del (p.Phe141del) Deletion Pathogenic 10532 rs587776732 GRCh37: X:18969253-18969255
GRCh38: X:18951135-18951137
11 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) SNV Pathogenic 10533 rs137852293 GRCh37: X:18912518-18912518
GRCh38: X:18894400-18894400
12 PHKA2 NM_000292.3(PHKA2):c.896A>G (p.Asp299Gly) SNV Pathogenic 10534 rs137852289 GRCh37: X:18958135-18958135
GRCh38: X:18940017-18940017
13 PHKA2 NM_000292.3(PHKA2):c.557G>A (p.Arg186His) SNV Pathogenic 10535 rs137852290 GRCh37: X:18963257-18963257
GRCh38: X:18945139-18945139
14 PHKA2 NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) SNV Pathogenic 10538 rs137852294 GRCh37: X:18963258-18963258
GRCh38: X:18945140-18945140
15 PHKA2 NM_000292.3(PHKA2):c.884G>A (p.Arg295His) SNV Pathogenic 208676 rs797044877 GRCh37: X:18958147-18958147
GRCh38: X:18940029-18940029
16 PHKA2 NM_000292.3(PHKA2):c.2209C>T (p.Gln737Ter) SNV Pathogenic 575608 rs1569300538 GRCh37: X:18929007-18929007
GRCh38: X:18910889-18910889
17 PHKA2 NM_000292.3(PHKA2):c.2465del (p.Leu822fs) Deletion Pathogenic 578458 rs1569298646 GRCh37: X:18926070-18926070
GRCh38: X:18907952-18907952
18 PHKA2 NC_000023.11:g.(?_18920012)_(18920221_?)del Deletion Pathogenic 583617 GRCh37: X:18938130-18938339
GRCh38: X:18920012-18920221
19 PHKA2 NM_000292.3(PHKA2):c.1794-8_1812del Deletion Pathogenic 526623 rs1556000892 GRCh37: X:18938301-18938327
GRCh38: X:18920183-18920209
20 PHKA2 NM_000292.3(PHKA2):c.1054C>T (p.Arg352Ter) SNV Pathogenic 526624 rs1556007472 GRCh37: X:18954256-18954256
GRCh38: X:18936138-18936138
21 PHKA2 NM_000292.3(PHKA2):c.2772_2782del (p.Met924fs) Deletion Pathogenic 568551 rs1569297379 GRCh37: X:18924637-18924647
GRCh38: X:18906519-18906529
22 PHKA2 NM_000292.3(PHKA2):c.1546C>T (p.Gln516Ter) SNV Pathogenic 649460 rs1601739229 GRCh37: X:18943809-18943809
GRCh38: X:18925691-18925691
23 PHKA2 NM_000292.3(PHKA2):c.3331C>T (p.Arg1111Ter) SNV Pathogenic 655569 rs1601689006 GRCh37: X:18913261-18913261
GRCh38: X:18895143-18895143
24 PHKA2 NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter) Duplication Pathogenic 694636 rs1601714299 GRCh37: X:18927010-18927011
GRCh38: X:18908892-18908893
25 PHKA2 NM_000292.3(PHKA2):c.918+1G>A SNV Pathogenic 694638 rs1601760689 GRCh37: X:18958112-18958112
GRCh38: X:18939994-18939994
26 PHKA2 NM_000292.3(PHKA2):c.718-2A>G SNV Pathogenic 694641 rs1601763099 GRCh37: X:18959795-18959795
GRCh38: X:18941677-18941677
27 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter) SNV Pathogenic 803725 rs1601687244 GRCh37: X:18912462-18912462
GRCh38: X:18894344-18894344
28 PHKA2 NM_000292.3(PHKA2):c.314_317del (p.Thr105fs) Deletion Pathogenic 803730 rs1601776523 GRCh37: X:18969359-18969362
GRCh38: X:18951241-18951244
29 PHKA2 NM_000292.3(PHKA2):c.235C>T (p.Gln79Ter) SNV Pathogenic 807651 rs1601780766 GRCh37: X:18972374-18972374
GRCh38: X:18954256-18954256
30 PHKA2 NC_000023.11:g.(?_18929208)_(18983952_?)del Deletion Pathogenic 833058 GRCh37: X:18947326-19002070
31 PHKA2 NM_000292.3(PHKA2):c.1138-2A>G SNV Pathogenic 803728 rs1601748216 GRCh37: X:18949868-18949868
GRCh38: X:18931750-18931750
32 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter) SNV Pathogenic 845671 GRCh37: X:18912482-18912482
GRCh38: X:18894364-18894364
33 PHKA2 NM_000292.3(PHKA2):c.1205G>A (p.Trp402Ter) SNV Pathogenic 947434 GRCh37: X:18949799-18949799
GRCh38: X:18931681-18931681
34 PHKA2 NM_000292.3(PHKA2):c.93del (p.Leu32fs) Deletion Pathogenic 933869 GRCh37: X:18972516-18972516
GRCh38: X:18954398-18954398
35 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter) SNV Pathogenic 1028673 GRCh37: X:18912330-18912330
GRCh38: X:18894212-18894212
36 PHKA2 NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) SNV Pathogenic 10537 rs137852292 GRCh37: X:18969282-18969282
GRCh38: X:18951164-18951164
37 PHKA2 NM_000292.3(PHKA2):c.394C>T (p.His132Tyr) SNV Pathogenic 10537 rs137852292 GRCh37: X:18969282-18969282
GRCh38: X:18951164-18951164
38 PHKA2 NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) SNV Pathogenic/Likely pathogenic 644261 rs1601781031 GRCh37: X:18972476-18972476
GRCh38: X:18954358-18954358
39 PHKA2 NM_000292.3(PHKA2):c.-9_2del (p.Met1fs) Deletion Likely pathogenic 567305 rs1569344469 GRCh37: X:19002049-19002059
GRCh38: X:18983931-18983941
40 PHKA2 NM_000292.3(PHKA2):c.2597+1G>A SNV Likely pathogenic 566477 rs1210626722 GRCh37: X:18925135-18925135
GRCh38: X:18907017-18907017
41 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro) SNV Likely pathogenic 208738 rs797044921 GRCh37: X:18912476-18912476
GRCh38: X:18894358-18894358
42 PHKA2 NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs) Indel Likely pathogenic 694639 rs1601776276 GRCh37: X:18969257-18969271
GRCh38: X:18951139-18951153
43 PHKA2 NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp) SNV Likely pathogenic 694640 rs1601747985 GRCh37: X:18949759-18949759
GRCh38: X:18931641-18931641
44 PHKA2 NM_000292.3(PHKA2):c.556C>T (p.Arg186Cys) SNV Likely pathogenic 10538 rs137852294 GRCh37: X:18963258-18963258
GRCh38: X:18945140-18945140
45 PHKA2-AS1 , PHKA2 NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile) SNV Likely pathogenic 10533 rs137852293 GRCh37: X:18912518-18912518
GRCh38: X:18894400-18894400
46 PHKA2 NM_000292.3(PHKA2):c.128G>C (p.Trp43Ser) SNV Likely pathogenic 488576 rs1556016365 GRCh37: X:18972481-18972481
GRCh38: X:18954363-18954363
47 PHKA2 NM_000292.3(PHKA2):c.415T>C (p.Ser139Pro) SNV Likely pathogenic 522501 rs1556014969 GRCh37: X:18969261-18969261
GRCh38: X:18951143-18951143
48 PHKA2 NM_000292.3(PHKA2):c.1714+1G>A SNV Likely pathogenic 526620 rs1556002344 GRCh37: X:18942498-18942498
GRCh38: X:18924380-18924380
49 PHKA2 NM_000292.3(PHKA2):c.557G>A (p.Arg186His) SNV Likely pathogenic 10535 rs137852290 GRCh37: X:18963257-18963257
GRCh38: X:18945139-18945139
50 PHKA2 NM_000292.3(PHKA2):c.3336+2T>A SNV Likely pathogenic 526621 rs1555988479 GRCh37: X:18913254-18913254
GRCh38: X:18895136-18895136

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ixa1:

72 (show all 17)
# Symbol AA change Variation ID SNP ID
1 PHKA2 p.His132Pro VAR_006177 rs137852291
2 PHKA2 p.His132Tyr VAR_006178 rs137852292
3 PHKA2 p.Arg186Cys VAR_006180 rs137852294
4 PHKA2 p.Arg186His VAR_006181 rs137852290
5 PHKA2 p.Asp299Gly VAR_006183 rs137852289
6 PHKA2 p.Thr1114Ile VAR_006185 rs137852293
7 PHKA2 p.Pro1205Leu VAR_006186 rs137852288
8 PHKA2 p.Lys189Glu VAR_012269 rs137852295
9 PHKA2 p.Gly193Val VAR_012271
10 PHKA2 p.Arg295His VAR_012272 rs797044877
11 PHKA2 p.Pro399Ser VAR_012273
12 PHKA2 p.Glu1125Lys VAR_012276 rs155598807
13 PHKA2 p.Gly1207Trp VAR_012277
14 PHKA2 p.Pro498Leu VAR_062394 rs199792389
15 PHKA2 p.Pro869Arg VAR_062395 rs777137574
16 PHKA2 p.Arg916Trp VAR_062396 rs156929742
17 PHKA2 p.Met1113Ile VAR_062398

Expression for Glycogen Storage Disease Ixa1

Search GEO for disease gene expression data for Glycogen Storage Disease Ixa1.

Pathways for Glycogen Storage Disease Ixa1

GO Terms for Glycogen Storage Disease Ixa1

Sources for Glycogen Storage Disease Ixa1

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
69 Tocris
71 UMLS via Orphanet
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