GDHS
MCID: GRD009
MIFTS: 50

Gordon Holmes Syndrome (GDHS)

Categories: Endocrine diseases, Genetic diseases, Mental diseases, Metabolic diseases, Neuronal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Gordon Holmes Syndrome

MalaCards integrated aliases for Gordon Holmes Syndrome:

Name: Gordon Holmes Syndrome 57 12 43 73 36 29 6 15
Cerebellar Ataxia and Hypogonadotropic Hypogonadism 57 20 43 73 44 71
Lhrh Deficiency and Ataxia 57 12 20 43 73
Luteinizing Hormone-Releasing Hormone Deficiency with Ataxia 12 20 58
Cerebellar Ataxia-Hypogonadism Syndrome 12 20 58
Gdhs 57 12 73
Cahh 57 12 73
Deficiency of Luteinizing Hormone-Releasing Hormone with Ataxia 43 73
Gordon-Holmes Syndrome 20 58
Luteinizing Hormone-Releasing Hormone, Deficiency of, with Ataxia 57
Luteinizing Hormone Releasing Hormone, Deficiency of with Ataxia 20
Cerebellar Ataxia and Hypogonadotropic Hypogonadism; Cahh 57
Ataxia, Cerebellar, and Hypogonadotropic Hypogonadism 39
Cerebellar Ataxia - Hypogonadism 20

Characteristics:

Orphanet epidemiological data:

58
cerebellar ataxia-hypogonadism syndrome
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

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


HPO:

31
gordon holmes syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


Summaries for Gordon Holmes Syndrome

MedlinePlus Genetics : 43 Gordon Holmes syndrome is a rare condition characterized by reproductive and neurological problems. One of the key features of the condition is reduced production of hormones that direct sexual development (hypogonadotropic hypogonadism). Many affected individuals have a delay in development of the typical signs of puberty, such as the growth of facial hair and deepening of the voice in males, and the start of monthly periods (menstruation) and breast development in females. Some never undergo puberty. While some people with Gordon Holmes syndrome seem to have normal puberty, they develop other problems with the reproductive system later in life.In early adulthood, individuals with Gordon Holmes syndrome develop neurological problems, usually beginning with speech difficulties (dysarthria). As the condition worsens, affected individuals have problems with balance and coordination (cerebellar ataxia), often leading to difficulties with activities of daily living and a need for wheelchair assistance. Some affected individuals also develop memory problems and a decline in intellectual function (dementia).

MalaCards based summary : Gordon Holmes Syndrome, also known as cerebellar ataxia and hypogonadotropic hypogonadism, is related to boucher-neuhauser syndrome and spinocerebellar ataxia, autosomal recessive 16, and has symptoms including cerebellar ataxia An important gene associated with Gordon Holmes Syndrome is RNF216 (Ring Finger Protein 216), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drug Glutamic acid has been mentioned in the context of this disorder. Affiliated tissues include pituitary, hypothalamus and testes, and related phenotypes are neurological speech impairment and nystagmus

Disease Ontology : 12 An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has material basis in homozygous or compound heterozygous mutation in RNF216 on chromosome 7p22.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1173DefinitionCerebellar ataxia-hypogonadism syndrome is a very rare autosomal recessive neurodegenerative disorder characterized by the combination of progressive cerebellar ataxia with onset from early childhood to the fourth decade, and hypogonadotropic hypogonadism (delayed puberty and lack of secondary sex characteristics). Cerebellar ataxia-hypogonadism syndrome belongs to a clinical continuum of neurodegenerative disorders along with clinically overlapping disorders such as ataxia-hypogonadism-choroidal dystrophy syndrome (see this term).Visit the Orphanet disease page for more resources.

OMIM® : 57 Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015). (212840) (Updated 05-Mar-2021)

KEGG : 36 Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.

UniProtKB/Swiss-Prot : 73 Gordon Holmes syndrome: A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility.

Related Diseases for Gordon Holmes Syndrome

Graphical network of the top 20 diseases related to Gordon Holmes Syndrome:



Diseases related to Gordon Holmes Syndrome

Symptoms & Phenotypes for Gordon Holmes Syndrome

Human phenotypes related to Gordon Holmes Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 neurological speech impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0002167
2 nystagmus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000639
3 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
4 optic atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000648
5 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
6 abnormal electroretinogram 58 31 hallmark (90%) Very frequent (99-80%) HP:0000512
7 decreased fertility 58 31 hallmark (90%) Very frequent (99-80%) HP:0000144
8 gynecomastia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000771
9 abnormality of the hypothalamus-pituitary axis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000864
10 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
11 hemiplegia/hemiparesis 58 31 frequent (33%) Frequent (79-30%) HP:0004374
12 hypotonia 31 frequent (33%) HP:0001252
13 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
14 brachycephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000248
15 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
16 supernumerary nipple 58 31 occasional (7.5%) Occasional (29-5%) HP:0002558
17 dementia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000726
18 personality changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000751
19 oligomenorrhea 31 occasional (7.5%) HP:0000876
20 dysarthria 31 HP:0001260
21 muscular hypotonia 58 Frequent (79-30%)
22 behavioral abnormality 58 Occasional (29-5%)
23 abnormality of the skeletal system 31 HP:0000924
24 hypogonadotrophic hypogonadism 58 Very frequent (99-80%)
25 infertility 31 HP:0000789
26 abnormality of metabolism/homeostasis 31 HP:0001939
27 cerebellar atrophy 31 HP:0001272
28 chorioretinal dystrophy 31 HP:0001135
29 hypogonadism 58 Very frequent (99-80%)
30 cerebral atrophy 31 HP:0002059

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Voice:
dysarthria

Neurologic Central Nervous System:
cerebellar atrophy
cerebral atrophy
dementia
cerebellar ataxia
chorea, prominent (in some patients)

Genitourinary Internal Genitalia Female:
amenorrhea, primary or secondary (in some patients)
oligomenorrhea (in some patients)

Endocrine Features:
hypogonadotrophic hypogonadism
secondary sexual characteristics lacking
hypothalamic and/or pituitary defect
gonadotropin response to exogenous luteinizing hormone releasing hormone (lhrh, in some patients)

Genitourinary Internal Genitalia Male:
no spontaneous puberty (in some patients)
small, soft testes (in some patients)

Clinical features from OMIM®:

212840 (Updated 05-Mar-2021)

UMLS symptoms related to Gordon Holmes Syndrome:


cerebellar ataxia

GenomeRNAi Phenotypes related to Gordon Holmes Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-1 9.56 UBE2D2
2 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-2 9.56 GLUD1 MAPK1 UBE2D1 UBE2D2 UBE2D4
3 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.56 GLUD1 UBE2L3
4 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.5 GLUD1 RIPK1 UBE2D1 UBE2D3 UBE2D4 UBE2L3
5 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.5 GLUD1 RIPK1 UBE2D1 UBE2D2 UBE2D3 UBE2D4
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 9.5 GLUD1 UBE2L3

Drugs & Therapeutics for Gordon Holmes Syndrome

Drugs for Gordon Holmes Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Glutamic acid Approved, Nutraceutical 56-86-0 33032

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparative Study of Enzyme Immunoassays:Techlab Toxins A&B, C Diff Quick Check for Glutamate Dehydrogenase (GDH);3 PCRs,and Cytotoxin Assay (CTA) for the Detection of Clostridium Difficile Toxin in Adult Stool Specimens Completed NCT01066221

Search NIH Clinical Center for Gordon Holmes Syndrome

Cochrane evidence based reviews: cerebellar ataxia and hypogonadotropic hypogonadism

Genetic Tests for Gordon Holmes Syndrome

Genetic tests related to Gordon Holmes Syndrome:

# Genetic test Affiliating Genes
1 Gordon Holmes Syndrome 29 RNF216

Anatomical Context for Gordon Holmes Syndrome

MalaCards organs/tissues related to Gordon Holmes Syndrome:

40
Pituitary, Hypothalamus, Testes, Cerebellum, Skeletal Muscle

Publications for Gordon Holmes Syndrome

Articles related to Gordon Holmes Syndrome:

(show all 37)
# Title Authors PMID Year
1
RNF216 mutations as a novel cause of autosomal recessive Huntington-like disorder. 57 6 61
25841028 2015
2
Hypogonadotropic hypogonadism and cerebellar ataxia: detailed phenotypic characterization of a large, extended kindred. 61 6 57
11932290 2002
3
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination. 6 57
23656588 2013
4
Familial cerebellar ataxia and hypogonadotropic hypogonadism: evidence for hypothalamic LHRH deficiency. 57 61
6813427 1982
5
Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. 57
2243234 1990
6
FAMILIAL CEREBELLAR ATAXIA AND HYPOGONADISM. 57
14215172 1964
7
Familial hypogonadotrophic eunuchoidism with cerebellar ataxia. 57
13997834 1963
8
Novel variants in PNPLA6 causing syndromic retinal dystrophy. 61
33141049 2021
9
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan. 61
32367277 2020
10
Extending the Phenotypic Spectrum Associated with STUB1 Mutations: A Case of Dystonia. 61
32258232 2020
11
Mechanism and chain specificity of RNF216/TRIAD3, the ubiquitin ligase mutated in Gordon Holmes syndrome. 61
31087003 2019
12
RNF216 is essential for spermatogenesis and male fertility†. 61
30649198 2019
13
Gordon Holmes Syndrome Caused by RNF216 Novel Mutation in 2 Argentinean Siblings. 61
30949559 2019
14
Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge. 61
30555943 2019
15
TRIAD3/RNF216 E3 ligase specifically synthesises K63-linked ubiquitin chains and is inactivated by mutations associated with Gordon Holmes syndrome. 61
30886743 2019
16
RNF216 Regulates the Migration of Immortalized GnRH Neurons by Suppressing Beclin1-Mediated Autophagy. 61
30733708 2019
17
Rare case of Gordon Holmes syndrome. 61
29954774 2018
18
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. 61
29248984 2018
19
Establishment of STUB1/CHIP mutant induced pluripotent stem cells (iPSCs) from a patient with Gordon Holmes syndrome/SCAR16. 61
29679845 2018
20
Sir Gordon Morgan Holmes (1876-1965): one of the founders of modern neurology. 61
29116546 2018
21
Gordon Holmes syndrome: finally genotype meets phenotype. 61
28972031 2017
22
TRIAD3/RNF216 mutations associated with Gordon Holmes syndrome lead to synaptic and cognitive impairments via Arc misregulation. 61
27995769 2017
23
STUB1/CHIP mutations cause Gordon Holmes syndrome as part of a widespread multisystemic neurodegeneration: evidence from four novel mutations. 61
28193273 2017
24
Phenotypic spectrum of POLR3B mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies. 61
27512013 2017
25
Ataxia and Hypogonadotropic Hypogonadism with Intrafamilial Variability Caused by RNF216 Mutation. 61
27441066 2016
26
SKELETAL MUSCLE MITOCHONDRIAL ALTERATIONS IN CARBOXYL TERMINUS OF HSC70 INTERACTING PROTEIN (CHIP) -/- MICE. 61
28593200 2016
27
Mutations in RNF216 do not cause 4H syndrome. 61
26365775 2015
28
Neuropathy target esterase impairments cause Oliver-McFarlane and Laurence-Moon syndromes. 61
25480986 2015
29
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids. 61
25178427 2015
30
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview. 61
25413954 2015
31
Delayed Induction of Human NTE (PNPLA6) Rescues Neurodegeneration and Mobility Defects of Drosophila swiss cheese (sws) Mutants. 61
26671664 2015
32
PNPLA6-Related Disorders 61
25299038 2014
33
Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome. 61
25033069 2014
34
Ataxia and hypogonadism caused by the loss of ubiquitin ligase activity of the U box protein CHIP. 61
24113144 2014
35
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. 61
24355708 2014
36
The gonadotropin-releasing hormone type I receptor is expressed in the mouse cerebellum. 61
18592335 2008
37
Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism. 61
1149314 1975

Variations for Gordon Holmes Syndrome

ClinVar genetic disease variations for Gordon Holmes Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF216 NM_207111.4(RNF216):c.1367G>A (p.Gly456Glu) SNV Pathogenic 199654 rs794728000 7:5769085-5769085 7:5729454-5729454
2 RNF216 NM_207111.4(RNF216):c.904C>T (p.Gln302Ter) SNV Pathogenic 199655 rs373785974 7:5780744-5780744 7:5741113-5741113
3 RNF216 NM_207111.4(RNF216):c.1616A>G (p.Tyr539Cys) SNV Pathogenic 199656 rs148642312 7:5760692-5760692 7:5721061-5721061
4 RNF216 NM_207111.4(RNF216):c.202-1G>C SNV Pathogenic 587594 rs1562451985 7:5781447-5781447 7:5741816-5741816
5 RNF216 NM_207111.4(RNF216):c.613_614GA[1] (p.Glu205fs) Microsatellite Pathogenic 50914 rs387907370 7:5781032-5781033 7:5741401-5741402
6 RNF216 GRCh37/hg19 7p22.1(chr7:5692044-5692141) copy number loss Pathogenic 813323 7:5692044-5692141
7 RNF216 NM_207111.4(RNF216):c.1791T>A (p.Cys597Ter) SNV Pathogenic 50913 rs387907369 7:5754726-5754726 7:5715095-5715095
8 RNF216 NM_207111.4(RNF216):c.2251C>T (p.Arg751Cys) SNV Pathogenic 50912 rs387907368 7:5680916-5680916 7:5641285-5641285
9 RNF216 NM_207111.4(RNF216):c.2663T>A (p.Val888Glu) SNV Uncertain significance 800990 rs1449103875 7:5662600-5662600 7:5622969-5622969
10 RNF216 NM_207111.4(RNF216):c.2686G>T (p.Val896Phe) SNV Uncertain significance 802289 rs141327139 7:5662577-5662577 7:5622946-5622946

UniProtKB/Swiss-Prot genetic disease variations for Gordon Holmes Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 RNF216 p.Arg660Cys VAR_070048 rs133521537
2 RNF216 p.Arg694Cys VAR_070049 rs387907368

Expression for Gordon Holmes Syndrome

Search GEO for disease gene expression data for Gordon Holmes Syndrome.

Pathways for Gordon Holmes Syndrome

Pathways related to Gordon Holmes Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.92 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
2
Show member pathways
13.33 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
3
Show member pathways
13.01 UBE2D3 UBE2D2 UBE2D1 UBC ST13 MAPK1
4 12.43 UBC RIPK1 GLUD1 ARC
5
Show member pathways
12.43 UBE2D3 UBE2D2 UBE2D1 UBC RNF216 RIPK1
6 12.26 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC RIPK1
7
Show member pathways
12.17 UBE2D3 UBE2D1 UBC STUB1
8 12.11 UBE2D4 UBE2D3 UBE2D2 UBE2D1 STUB1
9 11.95 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
10 11.85 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
11
Show member pathways
11.77 UBE2D1 UBC STUB1
12
Show member pathways
11.61 UBE2D3 UBE2D1 MAPK1
13 11.6 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
14
Show member pathways
11.49 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
15 11.28 UBE2D1 UBC RIPK1
16 11.28 UBE2L3 UBE2D1 UBC STUB1
17 11.23 UBE2D3 UBE2D2 UBE2D1
18 11.19 UBE2L3 STUB1 MAPK1
19 11.17 UBE2D4 UBE2D3 UBE2D1 RNF216
20 11.03 UBE2D3 UBE2D2 UBE2D1 UBC RIPK1
21 10.97 GLUD2 GLUD1
22
Show member pathways
10.4 GLUD2 GLUD1

GO Terms for Gordon Holmes Syndrome

Cellular components related to Gordon Holmes Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.9 UBE2L3 UBE2D3 UBE2D2 UBE2D1 UBC SUMO2
2 cytosol GO:0005829 9.8 UBE2L3 UBE2D3 UBE2D2 UBE2D1 UBC STUB1
3 ubiquitin ligase complex GO:0000151 9.02 UBE2L3 UBE2D4 UBE2D2 UBE2D1 STUB1

Biological processes related to Gordon Holmes Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.91 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
2 ubiquitin-dependent protein catabolic process GO:0006511 9.88 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 STUB1
3 protein polyubiquitination GO:0000209 9.87 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 UBC
4 protein deubiquitination GO:0016579 9.86 UBE2D1 UBC RIPK1 OTUD4
5 proteasome-mediated ubiquitin-dependent protein catabolic process GO:0043161 9.83 UBE2D3 STUB1 RNF4 RNF216
6 protein autoubiquitination GO:0051865 9.76 UBE2D3 UBE2D2 STUB1 RNF4
7 cellular protein modification process GO:0006464 9.74 UBE2L3 UBE2D3 UBE2D2
8 protein targeting to peroxisome GO:0006625 9.73 UBE2D3 UBE2D2 UBE2D1 UBC
9 positive regulation of protein ubiquitination GO:0031398 9.72 UBE2L3 UBE2D1 STUB1
10 protein K63-linked ubiquitination GO:0070534 9.67 UBE2D4 STUB1 RNF4
11 protein K11-linked ubiquitination GO:0070979 9.67 UBE2L3 UBE2D4 UBE2D3 RNF4
12 positive regulation of ubiquitin-protein transferase activity GO:0051443 9.58 UBE2L3 STUB1
13 TRIF-dependent toll-like receptor signaling pathway GO:0035666 9.55 UBE2D3 UBE2D2 UBE2D1 UBC RIPK1
14 protein K6-linked ubiquitination GO:0085020 9.54 UBE2D4 RNF4
15 glutamate biosynthetic process GO:0006537 9.51 GLUD2 GLUD1
16 glutamate catabolic process GO:0006538 9.48 GLUD2 GLUD1
17 MyD88-independent toll-like receptor signaling pathway GO:0002756 9.35 UBE2D3 UBE2D2 UBE2D1 UBC RIPK1
18 protein K48-linked ubiquitination GO:0070936 9.1 UBE2D4 UBE2D3 UBE2D2 UBE2D1 RNF4 RNF216

Molecular functions related to Gordon Holmes Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleotide binding GO:0000166 10.1 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 RIPK1
2 ATP binding GO:0005524 10.06 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 RIPK1
3 transferase activity GO:0016740 10 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 STUB1
4 ubiquitin protein ligase activity GO:0061630 9.83 UBE2D3 UBE2D2 UBE2D1 STUB1 RNF216
5 ubiquitin protein ligase binding GO:0031625 9.7 UBE2L3 UBE2D4 UBE2D1 UBC SUMO2 STUB1
6 protein tag GO:0031386 9.51 UBC SUMO2
7 ubiquitin-protein transferase activity GO:0004842 9.5 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1 STUB1
8 leucine binding GO:0070728 9.48 GLUD2 GLUD1
9 oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor GO:0016639 9.4 GLUD2 GLUD1
10 glutamate dehydrogenase [NAD(P)+] activity GO:0004353 9.37 GLUD2 GLUD1
11 glutamate dehydrogenase (NAD+) activity GO:0004352 9.32 GLUD2 GLUD1
12 ubiquitin conjugating enzyme activity GO:0061631 9.02 UBE2L3 UBE2D4 UBE2D3 UBE2D2 UBE2D1

Sources for Gordon Holmes Syndrome

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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