RIDL
MCID: RDD003
MIFTS: 49

Riddle Syndrome (RIDL)

Categories: Blood diseases, Genetic diseases, Immune diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Riddle Syndrome

MalaCards integrated aliases for Riddle Syndrome:

Name: Riddle Syndrome 56 12 58 73 36 29 13 6 43 15 39 17 71
Radiosensitivity-Immunodeficiency-Dysmorphic Features-Learning Difficulties Syndrome 12 58
Rnf168 Deficiency 12 58
Radiosensitivity, Immunodeficiency, Dysmorphic Facial Features, and Learning Difficulties 56
Riddles 73
Ridl 56

Characteristics:

Orphanet epidemiological data:

58
riddle syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Infancy; Age of death: adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
two unrelated patients have been reported (last curated july 2014) onset in infancy or childhood


HPO:

31
riddle syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare immunological diseases


Summaries for Riddle Syndrome

KEGG : 36 RIDDLE (radiosensitivity, immunodeficiency, dysmorphic features, and learning difficulties) syndrome is an immunodeficiency disorder that primarily manifests as an immunoglobulin deficiency. The underlying genetic cause of this syndrome is defective RNF168 that functions to recruit DNA double-strand break (DSB) repair proteins, such as 53BP1 and BRCA1, to sites of DNA damage. As with patients with other DSB repair disorders, the RIDDLE patients also present with nonimmunological characteristics including short stature and motor control problems.

MalaCards based summary : Riddle Syndrome, also known as radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome, is related to ataxia-telangiectasia and canavan disease, and has symptoms including ataxia and dry skin. An important gene associated with Riddle Syndrome is RNF168 (Ring Finger Protein 168), and among its related pathways/superpathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Metabolism of proteins. Affiliated tissues include skin, eye and breast, and related phenotypes are short stature and immunodeficiency

Disease Ontology : 12 A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has material basis in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29.

OMIM : 56 RIDDLE is an acronym for the major features of this syndrome: radiosensitivity, immunodeficiency, dysmorphic facies, and learning difficulties (Stewart et al., 2007). (611943)

UniProtKB/Swiss-Prot : 73 Riddle syndrome: Characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature. Defects are probably due to impaired localization of TP53BP1 and BRCA1 at DNA lesions.

Wikipedia : 74 RIDDLE syndrome is a rare genetic syndrome. The name is an acronym for Radiosensitivity,... more...

Related Diseases for Riddle Syndrome

Diseases related to Riddle Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 284)
# Related Disease Score Top Affiliating Genes
1 ataxia-telangiectasia 29.5 TP53BP1 H2AX BRCA1
2 canavan disease 11.3
3 ovarian carcinosarcoma 10.2 H2AC18 BRCA1
4 breast cancer 10.2
5 legionnaire disease 10.2
6 lung large cell carcinoma 10.2
7 hypoglycemia 10.2
8 candida glabrata 10.2
9 sarcoidosis 1 10.1
10 primary agammaglobulinemia 10.1
11 aplastic anemia 10.1
12 pulmonary fibrosis and/or bone marrow failure, telomere-related, 2 10.1
13 atrial fibrillation 10.1
14 primary hyperoxaluria 10.0 TP53BP1 H2AC20 H2AC18
15 severe combined immunodeficiency with sensitivity to ionizing radiation 10.0 TP53BP1 H2AC18 ERCC6
16 pfeiffer syndrome 10.0
17 autism 10.0
18 malaria 10.0
19 tropical sprue 10.0
20 diarrhea 10.0
21 cholera 10.0
22 pustulosis of palm and sole 10.0
23 psoriasis 10.0
24 depression 10.0
25 fanconi anemia, complementation group d1 10.0 H2AC18 ERCC6 BRCA1
26 fanconi anemia, complementation group j 10.0 H2AC18 ERCC6 BRCA1
27 wilson-turner x-linked mental retardation syndrome 10.0 H2AC18 H2AC13 H2AC12
28 immune deficiency disease 9.9
29 syndromic x-linked intellectual disability 9.9 H2AC18 H2AC13 H2AC12
30 lig4 syndrome 9.9 TP53BP1 RNF168 MDC1
31 cockayne syndrome b 9.9 ERCC6 BRCA1
32 xeroderma pigmentosum group e 9.9 H2AC20 H2AC18 ERCC6
33 alzheimer disease 9.9
34 atherosclerosis susceptibility 9.9
35 gastroesophageal reflux 9.9
36 osteoporosis 9.9
37 otitis media 9.9
38 parkinson disease, late-onset 9.9
39 prostate cancer 9.9
40 syringomyelia, noncommunicating isolated 9.9
41 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 9.9
42 asthma 9.9
43 bone mineral density quantitative trait locus 8 9.9
44 acute promyelocytic leukemia 9.9
45 bone mineral density quantitative trait locus 15 9.9
46 deficiency anemia 9.9
47 aphasia 9.9
48 thrombosis 9.9
49 exhibitionism 9.9
50 amnestic disorder 9.9

Graphical network of the top 20 diseases related to Riddle Syndrome:



Diseases related to Riddle Syndrome

Symptoms & Phenotypes for Riddle Syndrome

Human phenotypes related to Riddle Syndrome:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 immunodeficiency 58 31 hallmark (90%) Very frequent (99-80%) HP:0002721
3 elevated alpha-fetoprotein 58 31 hallmark (90%) Very frequent (99-80%) HP:0006254
4 decreased circulating iga level 58 31 hallmark (90%) Very frequent (99-80%) HP:0002720
5 decreased circulating igg level 58 31 hallmark (90%) Very frequent (99-80%) HP:0004315
6 chromosomal breakage induced by ionizing radiation 58 31 hallmark (90%) Very frequent (99-80%) HP:0010997
7 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
8 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
9 recurrent pneumonia 58 31 frequent (33%) Frequent (79-30%) HP:0006532
10 recurrent fever 58 31 frequent (33%) Frequent (79-30%) HP:0001954
11 bronchitis 58 31 frequent (33%) Frequent (79-30%) HP:0012387
12 recurrent sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011108
13 chronic sinusitis 58 31 frequent (33%) Frequent (79-30%) HP:0011109
14 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
15 arthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001369
16 microcephaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0000252
17 gait disturbance 58 31 occasional (7.5%) Occasional (29-5%) HP:0001288
18 ataxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001251
19 weight loss 58 31 occasional (7.5%) Occasional (29-5%) HP:0001824
20 erythema 58 31 occasional (7.5%) Occasional (29-5%) HP:0010783
21 abdominal pain 58 31 occasional (7.5%) Occasional (29-5%) HP:0002027
22 restrictive ventilatory defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0002091
23 pulmonary fibrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002206
24 conjunctival telangiectasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000524
25 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
26 headache 58 31 occasional (7.5%) Occasional (29-5%) HP:0002315
27 respiratory failure 58 31 occasional (7.5%) Occasional (29-5%) HP:0002878
28 clumsiness 58 31 occasional (7.5%) Occasional (29-5%) HP:0002312
29 emotional lability 58 31 occasional (7.5%) Occasional (29-5%) HP:0000712
30 diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0002014
31 interstitial pulmonary abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0006530
32 abnormality of the cerebral white matter 58 31 occasional (7.5%) Occasional (29-5%) HP:0002500
33 demyelinating peripheral neuropathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0007108
34 decreased circulating total igm 58 31 occasional (7.5%) Occasional (29-5%) HP:0002850
35 generalized lymphadenopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0008940
36 scaling skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0040189
37 recurrent viral infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0004429
38 neonatal asphyxia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012768
39 enuresis nocturna 58 31 occasional (7.5%) Occasional (29-5%) HP:0010677
40 poor hand-eye coordination 58 31 occasional (7.5%) Occasional (29-5%) HP:0007057
41 intraventricular hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0030746
42 dry skin 31 HP:0000958
43 mild global developmental delay 31 HP:0011342
44 pneumonia 58 Frequent (79-30%)
45 telangiectasia 58 Occasional (29-5%)
46 increased sensitivity to ionizing radiation 31 HP:0011133

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Neurologic Central Nervous System:
ataxia
learning difficulties (in 1 patient)
impaired motor control, mild

Head And Neck Head:
microcephaly (in some patients)

Head And Neck Eyes:
ocular telangiectasia

Immunology:
immunodeficiency
variably decreased serum iga, igg, and igm

Skin Nails Hair Skin:
dry skin

Laboratory Abnormalities:
increased alpha-fetoprotein
cells show increased sensitivity to ionizing radiation
defect in double-stranded dna repair

Respiratory:
progressive pulmonary failure (1 patient)
interstitial pneumonia (1 patient)
pulmonary fibrosis (1 patient)
bronchial telangiectasia (1 patient)

Clinical features from OMIM:

611943

UMLS symptoms related to Riddle Syndrome:


ataxia, dry skin

GenomeRNAi Phenotypes related to Riddle Syndrome according to GeneCards Suite gene sharing:

26 (show top 50) (show all 80)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 10.88 H2AC15
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.88 H2AC18 H2AC20
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.88 H2AC15
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.88 H2AC11
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.88 H2AC15
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.88 BRCC3
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 10.88 BRCC3
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-137 10.88 H2AC15
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.88 H2AC18 H2AC20 H2AC13
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-165 10.88 H2AC18 H2AC20 H2AC13
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.88 H2AC18 H2AC20
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.88 H2AC20
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-174 10.88 H2AC12
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.88 H2AC11 H2AC12
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 10.88 H2AC15 H2AC18 H2AC20
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.88 H2AC11
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.88 H2AC15 MDC1 H2AX
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 10.88 H2AC11 H2AC12 H2AC15 H2AC18 H2AC20
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.88 H2AC15
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-43 10.88 H2AC12 H2AC18 H2AC20 H2AX
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-46 10.88 H2AC13
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 10.88 H2AC15
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.88 MDC1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-77 10.88 H2AC13
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-81 10.88 H2AC12
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.88 H2AC13 H2AX
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-99 10.88 BRCC3
28 Increased shRNA abundance (Z-score > 2) GR00366-A-10 10.88 H2AC13
29 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.88 H2AC13
30 Increased shRNA abundance (Z-score > 2) GR00366-A-11 10.88 TP53BP1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.88 MDC1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.88 ERCC6
33 Increased shRNA abundance (Z-score > 2) GR00366-A-119 10.88 H2AC15 H2AC13 H2AC20
34 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.88 H2AC15 ERCC6
35 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.88 RNF168
36 Increased shRNA abundance (Z-score > 2) GR00366-A-125 10.88 H2AC13
37 Increased shRNA abundance (Z-score > 2) GR00366-A-13 10.88 H2AC15
38 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.88 H2AC13 ERCC6
39 Increased shRNA abundance (Z-score > 2) GR00366-A-137 10.88 MDC1 BRCA1 ERCC6
40 Increased shRNA abundance (Z-score > 2) GR00366-A-139 10.88 BRCA1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-148 10.88 H2AX ERCC6
42 Increased shRNA abundance (Z-score > 2) GR00366-A-150 10.88 MDC1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-152 10.88 H2AC15 H2AC20
44 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.88 ERCC6
45 Increased shRNA abundance (Z-score > 2) GR00366-A-160 10.88 H2AC15
46 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.88 ERCC6
47 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.88 RNF168 TP53BP1 BRCA1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.88 H2AC20
49 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.88 H2AC12
50 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.88 TP53BP1

MGI Mouse Phenotypes related to Riddle Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.17 BRCA1 ERCC6 H2AX RNF168 RNF8 TP53BP1

Drugs & Therapeutics for Riddle Syndrome

Search Clinical Trials , NIH Clinical Center for Riddle Syndrome

Cochrane evidence based reviews: riddle syndrome

Genetic Tests for Riddle Syndrome

Genetic tests related to Riddle Syndrome:

# Genetic test Affiliating Genes
1 Riddle Syndrome 29 RNF168

Anatomical Context for Riddle Syndrome

MalaCards organs/tissues related to Riddle Syndrome:

40
Skin, Eye, Breast

Publications for Riddle Syndrome

Articles related to Riddle Syndrome:

(show all 13)
# Title Authors PMID Year
1
The RIDDLE syndrome protein mediates a ubiquitin-dependent signaling cascade at sites of DNA damage. 61 56 6
19203578 2009
2
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia. 6 56
21394101 2011
3
RIDDLE immunodeficiency syndrome is linked to defects in 53BP1-mediated DNA damage signaling. 56 61
17940005 2007
4
Novel 3q27.2-qter deletion in a patient with Diamond-Blackfan anemia and immunodeficiency: Case report and review of literature. 61
28432740 2017
5
Case-control analysis of truncating mutations in DNA damage response genes connects TEX15 and FANCD2 with hereditary breast cancer susceptibility. 61
28386063 2017
6
An E2-guided E3 Screen Identifies the RNF17-UBE2U Pair as Regulator of the Radiosensitivity, Immunodeficiency, Dysmorphic Features, and Learning Difficulties (RIDDLE) Syndrome Protein RNF168. 61
27903633 2017
7
Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings. 61
29255463 2017
8
RNF168 and USP10 regulate topoisomerase IIα function via opposing effects on its ubiquitylation. 61
27558965 2016
9
Modulation of LSD1 phosphorylation by CK2/WIP1 regulates RNF168-dependent 53BP1 recruitment in response to DNA damage. 61
25999347 2015
10
The 3q29 microdeletion syndrome: report of three new unrelated patients and in silico "RNA binding" analysis of the 3q29 region. 61
21626679 2011
11
Genomic instability, defective spermatogenesis, immunodeficiency, and cancer in a mouse model of the RIDDLE syndrome. 61
21552324 2011
12
DNA double-strand break repair, immunodeficiency and the RIDDLE syndrome. 61
21426255 2011
13
Solving the RIDDLE of 53BP1 recruitment to sites of damage. 61
19372751 2009

Variations for Riddle Syndrome

ClinVar genetic disease variations for Riddle Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 RNF168 NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs)deletion Pathogenic 488 3:196199080-196199083 3:196472209-196472212
2 RNF168 NM_152617.4(RNF168):c.397dup (p.Ala133fs)duplication Pathogenic 487 3:196214430-196214431 3:196487559-196487560
3 RNF168 NM_152617.4(RNF168):c.391C>T (p.Arg131Ter)SNV Likely pathogenic 140755 rs201915239 3:196214437-196214437 3:196487566-196487566

Expression for Riddle Syndrome

Search GEO for disease gene expression data for Riddle Syndrome.

Pathways for Riddle Syndrome

Pathways related to Riddle Syndrome according to GeneCards Suite gene sharing:

(show all 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.67 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
2
Show member pathways
13.65 UIMC1 UBE2N TP53BP1 RNF168 MDC1 H2AX
3
Show member pathways
13.34 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
4
Show member pathways
13.18 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
5
Show member pathways
12.99 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
6
Show member pathways
12.62 UIMC1 H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
7
Show member pathways
12.59 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
8 12.46 UIMC1 UBE2N TP53BP1 H2AX BRCC3 BRCA1
9
Show member pathways
12.4 TP53BP1 RNF168 MDC1 BRCA1
10
Show member pathways
12.4 H2AX H2AC20 H2AC18 H2AC14 BRCA1
11
Show member pathways
12.39 H2AX H2AC20 H2AC18 H2AC14
12
Show member pathways
12.33 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
13
Show member pathways
12.27 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
14
Show member pathways
11.93 UIMC1 BRCC3 BRCA1
15
Show member pathways
11.84 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
16
Show member pathways
11.76 TP53BP1 MDC1 H2AX BRCA1
17 11.52 TP53BP1 RNF8 RNF168 MDC1 H2AX
18 10.94 UIMC1 H2AC20 H2AC18 H2AC15 H2AC14 H2AC13

GO Terms for Riddle Syndrome

Cellular components related to Riddle Syndrome according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 10.19 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
2 extracellular exosome GO:0070062 10.13 UBE2N H2AX H2AC20 H2AC18 H2AC15 H2AC14
3 nucleus GO:0005634 10.11 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
4 nuclear chromatin GO:0000790 9.91 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
5 nuclear body GO:0016604 9.85 UIMC1 TP53BP1 MDC1 ERCC6 BRCA1
6 ubiquitin ligase complex GO:0000151 9.72 UBE2N RNF8 RNF168 BRCC3 BRCA1
7 site of double-strand break GO:0035861 9.71 TP53BP1 RNF8 RNF168 H2AX
8 chromosome, telomeric region GO:0000781 9.65 TP53BP1 RNF8 H2AX
9 nucleosome GO:0000786 9.61 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
10 BRCA1-A complex GO:0070531 9.54 UIMC1 BRCC3 BRCA1
11 site of DNA damage GO:0090734 9.51 H2AX ERCC6
12 chromosome GO:0005694 9.44 TP53BP1 RNF8 MDC1 H2AX H2AC20 H2AC18

Biological processes related to Riddle Syndrome according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 10.07 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
2 biological_process GO:0008150 10.02 H2AC20 H2AC18 H2AC15 H2AC14 H2AC13 H2AC12
3 DNA repair GO:0006281 10.02 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
4 cell cycle GO:0007049 9.99 RNF8 MDC1 H2AX BRCC3 BRCA1
5 double-strand break repair GO:0006302 9.91 UIMC1 RNF8 RNF168 H2AX BRCC3 BRCA1
6 response to ionizing radiation GO:0010212 9.88 UIMC1 RNF8 RNF168 H2AX BRCC3 BRCA1
7 positive regulation of DNA repair GO:0045739 9.86 UIMC1 UBE2N RNF8 RNF168 H2AX ERCC6
8 chromatin silencing GO:0006342 9.81 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13
9 double-strand break repair via homologous recombination GO:0000724 9.73 UBE2N H2AX BRCA1
10 protein K63-linked ubiquitination GO:0070534 9.71 UBE2N RNF8 RNF168
11 DNA damage checkpoint GO:0000077 9.69 TP53BP1 H2AX ERCC6
12 signal transduction involved in G2 DNA damage checkpoint GO:0072425 9.63 UIMC1 BRCC3 BRCA1
13 response to X-ray GO:0010165 9.61 ERCC6 BRCC3
14 double-strand break repair via nonhomologous end joining GO:0006303 9.61 UIMC1 UBE2N TP53BP1 RNF8 RNF168 MDC1
15 isotype switching GO:0045190 9.6 RNF8 RNF168
16 DNA double-strand break processing GO:0000729 9.58 UBE2N BRCA1
17 postreplication repair GO:0006301 9.58 UBE2N BRCA1
18 negative regulation of transcription elongation from RNA polymerase II promoter GO:0034244 9.57 RNF8 RNF168
19 histone H2A ubiquitination GO:0033522 9.55 RNF8 RNF168
20 histone H2A K63-linked deubiquitination GO:0070537 9.52 UIMC1 BRCC3
21 histone H2A K63-linked ubiquitination GO:0070535 9.49 RNF8 RNF168
22 chromatin organization GO:0006325 9.44 UIMC1 RNF8 RNF168 H2AX H2AC20 H2AC18

Molecular functions related to Riddle Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 molecular_function GO:0003674 9.85 H2AC20 H2AC18 H2AC15 H2AC14 H2AC12
2 DNA binding GO:0003677 9.73 TP53BP1 H2AX H2AC20 H2AC18 H2AC15 H2AC14
3 ubiquitin-protein transferase activity GO:0004842 9.71 UBE2N RNF8 RNF168 BRCA1
4 enzyme binding GO:0019899 9.65 H2AX H2AC15 H2AC13 H2AC11 BRCA1
5 histone binding GO:0042393 9.55 UIMC1 TP53BP1 RNF8 RNF168 H2AX
6 ubiquitin binding GO:0043130 9.54 UBE2N RNF8 RNF168
7 damaged DNA binding GO:0003684 9.5 TP53BP1 H2AX BRCA1
8 K63-linked polyubiquitin modification-dependent protein binding GO:0070530 9.43 UIMC1 RNF168
9 protein heterodimerization activity GO:0046982 9.28 H2AX H2AC20 H2AC18 H2AC15 H2AC14 H2AC13

Sources for Riddle Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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