PCH2D
MCID: PNT049
MIFTS: 43

Pontocerebellar Hypoplasia, Type 2d (PCH2D)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Pontocerebellar Hypoplasia, Type 2d

MalaCards integrated aliases for Pontocerebellar Hypoplasia, Type 2d:

Name: Pontocerebellar Hypoplasia, Type 2d 57 70
Pontocerebellar Hypoplasia Type 2d 57 12 29 13 6 15
Pch2d 57 72
Pcca 57 72
Cerebellocerebral Atrophy, Progressive; Pcca 57
Cerebellocerebral Atrophy, Progressive 57
Progressive Cerebello-Cerebral Atrophy 72
Progressive Cerebellocerebral Atrophy 72
Hypoplasia, Pontocerebellar, Type 2d 39
Pontocerebellar Hypoplasia 2d 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
reported in individuals of sephardic jewish ancestry


HPO:

31
pontocerebellar hypoplasia, type 2d:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0060270
OMIM® 57 613811
OMIM Phenotypic Series 57 PS607596
MeSH 44 D002526
ICD10 32 Q04.3
MedGen 41 C3151140
UMLS 70 C3151140

Summaries for Pontocerebellar Hypoplasia, Type 2d

OMIM® : 57 PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003). For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (277470). (613811) (Updated 20-May-2021)

MalaCards based summary : Pontocerebellar Hypoplasia, Type 2d, also known as pontocerebellar hypoplasia type 2d, is related to cerebellar hypoplasia and pontocerebellar hypoplasia, and has symptoms including seizures, clonus and sleep disturbances. An important gene associated with Pontocerebellar Hypoplasia, Type 2d is SEPSECS (Sep (O-Phosphoserine) TRNA:Sec (Selenocysteine) TRNA Synthase), and among its related pathways/superpathways is tRNA Aminoacylation. The drugs Metformin and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include eye, cerebellum and brain, and related phenotypes are clonus and sleep disturbance

Disease Ontology : 12 A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has material basis in autosomal recessive inheritance of mutation in the SEPSECS gene.

UniProtKB/Swiss-Prot : 72 Pontocerebellar hypoplasia 2D: A disorder characterized by postnatal onset of progressive atrophy of the cerebrum and cerebellum, microcephaly, profound mental retardation, spasticity, and variable seizures.

Related Diseases for Pontocerebellar Hypoplasia, Type 2d

Diseases in the Pontocerebellar Hypoplasia family:

Pontocerebellar Hypoplasia, Type 4 Pontocerebellar Hypoplasia, Type 2a
Pontocerebellar Hypoplasia, Type 1a Pontocerebellar Hypoplasia, Type 3
Pontocerebellar Hypoplasia, Type 5 Pontocerebellar Hypoplasia, Type 6
Pontocerebellar Hypoplasia, Type 2b Pontocerebellar Hypoplasia, Type 2c
Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia, Type 1b
Pontocerebellar Hypoplasia, Type 8 Pontocerebellar Hypoplasia, Type 7
Pontocerebellar Hypoplasia, Type 10 Pontocerebellar Hypoplasia, Type 9
Pontocerebellar Hypoplasia, Type 2e Pontocerebellar Hypoplasia, Type 1c
Pontocerebellar Hypoplasia, Type 2f Pontocerebellar Hypoplasia, Type 11
Pontocerebellar Hypoplasia, Type 1d Pontocerebellar Hypoplasia, Type 12
Pontocerebellar Hypoplasia, Type 13 Pontocerebellar Hypoplasia, Type 14
Pontocerebellar Hypoplasia, Type 15 Pontocerebellar Hypoplasia, Type 1e
Pontocerebellar Hypoplasia, Type 1f

Diseases related to Pontocerebellar Hypoplasia, Type 2d via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 cerebellar hypoplasia 29.8 RARS2 EXOSC3
2 pontocerebellar hypoplasia 29.4 SEPSECS RARS2 EXOSC3 CLP1
3 microcephaly 28.8 SEPSECS RARS2 EXOSC3 CLP1
4 propionic acidemia 11.5
5 pontocerebellar hypoplasia, type 2e 11.3
6 biotin deficiency 11.0
7 methylmalonic acidemia 11.0
8 multiple carboxylase deficiency 11.0
9 hypertrichosis universalis congenita, ambras type 10.9
10 fructose-1,6-bisphosphatase deficiency 10.9
11 maple syrup urine disease 10.9
12 immunodeficiency 34 10.9
13 abdominal obesity-metabolic syndrome 1 10.9
14 niemann-pick disease, type b 10.9
15 organic acidemia 10.9
16 amino acid metabolic disorder 10.9
17 autosomal recessive disease 10.2
18 spastic quadriplegia 10.1
19 quadriplegia 10.1
20 myopathy 10.1
21 mitochondrial myopathy 10.1
22 axonal neuropathy 10.1
23 cerebral atrophy 10.1
24 spasticity 10.1
25 3-methylglutaconic aciduria, type iii 10.1
26 peho syndrome 10.1
27 peho-like syndrome 10.1
28 encephalopathy 10.1
29 ocular motor apraxia 9.9
30 gallbladder disease 1 9.9
31 cholangitis, primary sclerosing 9.9
32 cholangiocarcinoma 9.9
33 bacterial infectious disease 9.9
34 gout 9.9
35 sclerosing cholangitis 9.9
36 hyperuricemia 9.9
37 trichomoniasis 9.9
38 intrahepatic cholangiocarcinoma 9.9
39 amebiasis 9.9
40 cholangitis 9.9
41 hypotonia 9.9
42 rigid spine muscular dystrophy 1 9.7 SEPSECS SELENON SECISBP2
43 congenital fiber-type disproportion 9.7 SELENON SECISBP2
44 non-syndromic pontocerebellar hypoplasia 9.7 RARS2 EXOSC3
45 anterior horn cell disease 9.7 RARS2 EXOSC3
46 pontocerebellar hypoplasia, type 1e 9.6 RARS2 EXOSC3

Graphical network of the top 20 diseases related to Pontocerebellar Hypoplasia, Type 2d:



Diseases related to Pontocerebellar Hypoplasia, Type 2d

Symptoms & Phenotypes for Pontocerebellar Hypoplasia, Type 2d

Human phenotypes related to Pontocerebellar Hypoplasia, Type 2d:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 clonus 31 HP:0002169
2 sleep disturbance 31 HP:0002360
3 chorea 31 HP:0002072
4 global developmental delay 31 HP:0001263
5 spastic tetraplegia 31 HP:0002510
6 irritability 31 HP:0000737
7 hypoplasia of the corpus callosum 31 HP:0002079
8 cerebellar atrophy 31 HP:0001272
9 intellectual disability, profound 31 HP:0002187
10 cerebral atrophy 31 HP:0002059
11 abnormality of the periventricular white matter 31 HP:0002518
12 delayed myelination 31 HP:0012448
13 progressive microcephaly 31 HP:0000253
14 limb joint contracture 31 HP:0003121
15 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
clonus
delayed myelination
sleep disturbances
thin corpus callosum
more
Skeletal Limbs:
contractures

Neurologic Behavioral Psychiatric Manifestations:
irritability

Head And Neck Head:
microcephaly, postnatal, progressive

Clinical features from OMIM®:

613811 (Updated 20-May-2021)

UMLS symptoms related to Pontocerebellar Hypoplasia, Type 2d:


seizures; clonus; sleep disturbances

MGI Mouse Phenotypes related to Pontocerebellar Hypoplasia, Type 2d:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.1 CLP1 EXOSC3 GPX4 RARS2 SECISBP2 SEPSECS

Drugs & Therapeutics for Pontocerebellar Hypoplasia, Type 2d

Drugs for Pontocerebellar Hypoplasia, Type 2d (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metformin Approved Phase 1, Phase 2 657-24-9 14219 4091
2
Caffeine Approved Phase 2 58-08-2 2519
3 Hypoglycemic Agents Phase 1, Phase 2
4 insulin Phase 1, Phase 2
5 Insulin, Globin Zinc Phase 1, Phase 2
6 Central Nervous System Stimulants Phase 2
7 Phosphodiesterase Inhibitors Phase 2
8 Neurotransmitter Agents Phase 2
9
Sodium citrate Approved, Investigational 68-04-2
10
Oxytocin Approved, Vet_approved 50-56-6 439302 53477758
11
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
12 Citrate
13 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Metformin to Augment Low Milk Supply in Pre-diabetic Mothers, a Phase I/II Randomized Clinical Trial Completed NCT02179788 Phase 1, Phase 2 Metformin;Placebo
2 A Phase 1, Randomized, Double Blinded, Placebo Controlled Study of the Safety and Efficacy of a Caffeine-based Antifibrosis Cream in Patients With Breast Cancer Undergoing Radiation Therapy Recruiting NCT03768492 Phase 2 Caffeine anhydrous 5% added to Lipoderm Cream Base.
3 Randomized Clinical Trial Comparing Three Dimension Laparoscopic and Open Surgery for Perihiliar Cholangiocarcinoma Recruiting NCT03383796
4 A Pilot, Proof of Concept, Placebo-controlled, Parallel Study of the Effects of High Dose Intranasal Oxytocin for the Treatment of Tinnitus Recruiting NCT04210310 Oxytocin
5 Preoperative Portal Vein Embolization Using Coils Plus TAGM vs Multiple Coils for Patients With Perihilar Cholangiocarcinoma or Hepatocellular Carcinoma: a Randomized Controlled Study Recruiting NCT04386772

Search NIH Clinical Center for Pontocerebellar Hypoplasia, Type 2d

Genetic Tests for Pontocerebellar Hypoplasia, Type 2d

Genetic tests related to Pontocerebellar Hypoplasia, Type 2d:

# Genetic test Affiliating Genes
1 Pontocerebellar Hypoplasia Type 2d 29 SEPSECS

Anatomical Context for Pontocerebellar Hypoplasia, Type 2d

MalaCards organs/tissues related to Pontocerebellar Hypoplasia, Type 2d:

40
Eye, Cerebellum, Brain, Liver

Publications for Pontocerebellar Hypoplasia, Type 2d

Articles related to Pontocerebellar Hypoplasia, Type 2d:

# Title Authors PMID Year
1
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families. 6 57
25044680 2014
2
Mutations disrupting selenocysteine formation cause progressive cerebello-cerebral atrophy. 57 6
20920667 2010
3
Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia. 6 57
12920088 2003
4
A new mutation in the SEPSECS gene related to pontocerebellar hypoplasia type 2D. 61
31748115 2021
5
Consequences of mutations and inborn errors of selenoprotein biosynthesis and functions. 61
29709707 2018
6
A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia. 61
29464431 2018
7
Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis. 61
28917055 2018
8
Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency. 61
26805434 2016

Variations for Pontocerebellar Hypoplasia, Type 2d

ClinVar genetic disease variations for Pontocerebellar Hypoplasia, Type 2d:

6 (show top 50) (show all 107)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SEPSECS NM_016955.4(SEPSECS):c.1001A>G (p.Tyr334Cys) SNV Pathogenic 18400 rs267607036 GRCh37: 4:25146421-25146421
GRCh38: 4:25144799-25144799
2 SEPSECS NM_016955.5(SEPSECS):c.808dup Duplication Pathogenic 279890 rs776969714 GRCh37: 4:25146751-25146752
GRCh38: 4:25145129-25145130
3 SEPSECS NM_016955.4(SEPSECS):c.1466A>T (p.Asp489Val) SNV Pathogenic 190145 rs773876739 GRCh37: 4:25125593-25125593
GRCh38: 4:25123971-25123971
4 SEPSECS NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) Microsatellite Pathogenic 1031980 GRCh37: 4:25146396-25146399
GRCh38: 4:25144774-25144777
5 SEPSECS NM_016955.4(SEPSECS):c.388+5G>A SNV Likely pathogenic 374085 rs1057518887 GRCh37: 4:25158473-25158473
GRCh38: 4:25156851-25156851
6 SEPSECS NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) SNV Likely pathogenic 522806 rs146539065 GRCh37: 4:25146714-25146714
GRCh38: 4:25145092-25145092
7 SEPSECS NM_016955.4(SEPSECS):c.715G>A (p.Ala239Thr) SNV Likely pathogenic 18401 rs267607035 GRCh37: 4:25153671-25153671
GRCh38: 4:25152049-25152049
8 SEPSECS NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) SNV Likely pathogenic 620464 rs779387647 GRCh37: 4:25153620-25153620
GRCh38: 4:25151998-25151998
9 SEPSECS NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) SNV Uncertain significance 734701 rs572892329 GRCh37: 4:25125768-25125768
GRCh38: 4:25124146-25124146
10 SEPSECS NM_016955.4(SEPSECS):c.1212-10C>G SNV Uncertain significance 794196 rs375688949 GRCh37: 4:25125857-25125857
GRCh38: 4:25124235-25124235
11 SEPSECS NM_016955.4(SEPSECS):c.1027-9T>C SNV Uncertain significance 750868 rs368335778 GRCh37: 4:25128988-25128988
GRCh38: 4:25127366-25127366
12 SEPSECS NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) SNV Uncertain significance 695635 rs150309842 GRCh37: 4:25146641-25146641
GRCh38: 4:25145019-25145019
13 SEPSECS NM_016955.4(SEPSECS):c.388+10G>A SNV Uncertain significance 695730 rs376797370 GRCh37: 4:25158468-25158468
GRCh38: 4:25156846-25156846
14 SEPSECS NM_016955.4(SEPSECS):c.*6G>A SNV Uncertain significance 989877 GRCh37: 4:25125547-25125547
GRCh38: 4:25123925-25123925
15 SEPSECS NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn) SNV Uncertain significance 989878 GRCh37: 4:25125598-25125598
GRCh38: 4:25123976-25123976
16 SEPSECS NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr) SNV Uncertain significance 989879 GRCh37: 4:25125606-25125606
GRCh38: 4:25123984-25123984
17 SEPSECS NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) SNV Uncertain significance 989880 GRCh37: 4:25125669-25125669
GRCh38: 4:25124047-25124047
18 SEPSECS NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val) SNV Uncertain significance 989881 GRCh37: 4:25125708-25125708
GRCh38: 4:25124086-25124086
19 SEPSECS NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=) SNV Uncertain significance 989882 GRCh37: 4:25125739-25125739
GRCh38: 4:25124117-25124117
20 SEPSECS NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys) SNV Uncertain significance 989883 GRCh37: 4:25125809-25125809
GRCh38: 4:25124187-25124187
21 SEPSECS NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) SNV Uncertain significance 989884 GRCh37: 4:25125837-25125837
GRCh38: 4:25124215-25124215
22 SEPSECS NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr) SNV Uncertain significance 990315 GRCh37: 4:25128886-25128886
GRCh38: 4:25127264-25127264
23 SEPSECS NM_016955.4(SEPSECS):c.960A>G (p.Leu320=) SNV Uncertain significance 990316 GRCh37: 4:25146462-25146462
GRCh38: 4:25144840-25144840
24 SEPSECS NM_016955.4(SEPSECS):c.804+4A>T SNV Uncertain significance 990317 GRCh37: 4:25153578-25153578
GRCh38: 4:25151956-25151956
25 SEPSECS NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg) SNV Uncertain significance 990318 GRCh37: 4:25157707-25157707
GRCh38: 4:25156085-25156085
26 SEPSECS NM_016955.4(SEPSECS):c.264T>A (p.His88Gln) SNV Uncertain significance 990319 GRCh37: 4:25160580-25160580
GRCh38: 4:25158958-25158958
27 SEPSECS NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys) SNV Uncertain significance 1028038 GRCh37: 4:25160588-25160588
GRCh38: 4:25158966-25158966
28 SEPSECS NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) SNV Uncertain significance 900189 GRCh37: 4:25125733-25125733
GRCh38: 4:25124111-25124111
29 SEPSECS NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) SNV Uncertain significance 900190 GRCh37: 4:25125802-25125802
GRCh38: 4:25124180-25124180
30 SEPSECS NM_016955.4(SEPSECS):c.*3870A>T SNV Uncertain significance 901221 GRCh37: 4:25121683-25121683
GRCh38: 4:25120061-25120061
31 SEPSECS NM_016955.4(SEPSECS):c.*1591G>A SNV Uncertain significance 901287 GRCh37: 4:25123962-25123962
GRCh38: 4:25122340-25122340
32 SEPSECS NM_016955.4(SEPSECS):c.*1122C>T SNV Uncertain significance 901288 GRCh37: 4:25124431-25124431
GRCh38: 4:25122809-25122809
33 SEPSECS NM_016955.4(SEPSECS):c.*1031G>A SNV Uncertain significance 901289 GRCh37: 4:25124522-25124522
GRCh38: 4:25122900-25122900
34 SEPSECS NM_016955.4(SEPSECS):c.*1008T>C SNV Uncertain significance 901290 GRCh37: 4:25124545-25124545
GRCh38: 4:25122923-25122923
35 SEPSECS NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) SNV Uncertain significance 901351 GRCh37: 4:25127346-25127346
GRCh38: 4:25125724-25125724
36 SEPSECS NM_016955.4(SEPSECS):c.1120+8C>A SNV Uncertain significance 901352 GRCh37: 4:25128878-25128878
GRCh38: 4:25127256-25127256
37 SEPSECS NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) SNV Uncertain significance 901353 GRCh37: 4:25156687-25156687
GRCh38: 4:25155065-25155065
38 SEPSECS NM_016955.4(SEPSECS):c.*2921A>G SNV Uncertain significance 901771 GRCh37: 4:25122632-25122632
GRCh38: 4:25121010-25121010
39 SEPSECS NM_016955.4(SEPSECS):c.*2916A>G SNV Uncertain significance 901772 GRCh37: 4:25122637-25122637
GRCh38: 4:25121015-25121015
40 SEPSECS NM_016955.4(SEPSECS):c.*2871T>C SNV Uncertain significance 901773 GRCh37: 4:25122682-25122682
GRCh38: 4:25121060-25121060
41 SEPSECS NM_016955.4(SEPSECS):c.389-8A>C SNV Uncertain significance 901902 GRCh37: 4:25157825-25157825
GRCh38: 4:25156203-25156203
42 SEPSECS NM_016955.4(SEPSECS):c.389-10T>C SNV Uncertain significance 901903 GRCh37: 4:25157827-25157827
GRCh38: 4:25156205-25156205
43 SEPSECS NM_016955.4(SEPSECS):c.*2618C>A SNV Uncertain significance 902679 GRCh37: 4:25122935-25122935
GRCh38: 4:25121313-25121313
44 SEPSECS NM_016955.4(SEPSECS):c.*2480T>G SNV Uncertain significance 902680 GRCh37: 4:25123073-25123073
GRCh38: 4:25121451-25121451
45 SEPSECS NM_016955.4(SEPSECS):c.*352A>G SNV Uncertain significance 902750 GRCh37: 4:25125201-25125201
GRCh38: 4:25123579-25123579
46 SEPSECS NM_016955.4(SEPSECS):c.*328A>T SNV Uncertain significance 902751 GRCh37: 4:25125225-25125225
GRCh38: 4:25123603-25123603
47 SEPSECS NM_016955.4(SEPSECS):c.*327G>A SNV Uncertain significance 902752 GRCh37: 4:25125226-25125226
GRCh38: 4:25123604-25123604
48 SEPSECS NM_016955.4(SEPSECS):c.*610G>A SNV Uncertain significance 348540 rs570766273 GRCh37: 4:25124943-25124943
GRCh38: 4:25123321-25123321
49 SEPSECS NM_016955.4(SEPSECS):c.*2645A>G SNV Uncertain significance 348523 rs143152362 GRCh37: 4:25122908-25122908
GRCh38: 4:25121286-25121286
50 SEPSECS NM_016955.4(SEPSECS):c.*354C>T SNV Uncertain significance 348546 rs572862359 GRCh37: 4:25125199-25125199
GRCh38: 4:25123577-25123577

UniProtKB/Swiss-Prot genetic disease variations for Pontocerebellar Hypoplasia, Type 2d:

72
# Symbol AA change Variation ID SNP ID
1 SEPSECS p.Ala239Thr VAR_065585 rs267607035
2 SEPSECS p.Tyr334Cys VAR_065586 rs267607036
3 SEPSECS p.Thr325Ser VAR_074163 rs146136820

Expression for Pontocerebellar Hypoplasia, Type 2d

Search GEO for disease gene expression data for Pontocerebellar Hypoplasia, Type 2d.

Pathways for Pontocerebellar Hypoplasia, Type 2d

Pathways related to Pontocerebellar Hypoplasia, Type 2d according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.87 SEPSECS RARS2

GO Terms for Pontocerebellar Hypoplasia, Type 2d

Biological processes related to Pontocerebellar Hypoplasia, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 translation GO:0006412 9.13 SEPSECS SECISBP2 RARS2
2 selenocysteine incorporation GO:0001514 8.62 SEPSECS SECISBP2

Molecular functions related to Pontocerebellar Hypoplasia, Type 2d according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 8.92 SEPSECS SECISBP2 RARS2 EXOSC3

Sources for Pontocerebellar Hypoplasia, Type 2d

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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