Oliver Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OLV002 MIFTS: 42	Oliver Syndrome Categories: Bone diseases, Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Oliver Syndrome

MalaCards integrated aliases for Oliver Syndrome:

Name: Oliver Syndrome ⁵⁶ ⁵² ⁵⁸ ⁷¹

Postaxial Polydactyly-Intellectual Disability Syndrome ⁵² ⁵⁸

Postaxial Polydactyly and Mental Retardation ⁵⁶

Syndrome, Oliver ³⁹

Characteristics:

Orphanet epidemiological data:

⁵⁸

oliver syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁶

Inheritance:
autosomal recessive

HPO:

³¹

oliver syndrome:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases
Anatomical: Neuronal diseases Bone diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly involving limbs

Orphanet: ⁵⁸

Rare neurological diseases

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁶ 258200

ICD10 via Orphanet ³³ Q87.2

UMLS via Orphanet ⁷² C1850320

Orphanet ⁵⁸ ORPHA2920

MedGen ⁴¹ C1850320

UMLS ⁷¹ C1850320

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Summaries for Oliver Syndrome

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2920 Definition Oliver syndrome is a very rare syndrome characterized by intellectual deficit, postaxial polydactyly , and epilepsy . Epidemiology To date, seven individuals in three families have been reported. Clinical description Facial features are not characteristic except for a prominent jaw. Concordant features in all subjects are postaxial polydactyly, which in four individuals affect also the feet, and intellectual deficit, which is usually severe, with absent or indistinct speech. Seizures are common with onset in the first months of life or in early childhood. Cutaneous syndactyly , camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes have been recorded. Genetic counseling The condition is probably hereditary, and transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Oliver Syndrome, also known as postaxial polydactyly-intellectual disability syndrome, is related to adams-oliver syndrome 1 and adams-oliver syndrome 5. An important gene associated with Oliver Syndrome is NOTCH1 (Notch Receptor 1), and among its related pathways/superpathways are Notch Signaling Pathway (WikiPathways) and Wnt / Hedgehog / Notch. Affiliated tissues include brain, bone and heart, and related phenotypes are postaxial hand polydactyly and intellectual disability, profound

More information from OMIM: 258200

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Related Diseases for Oliver Syndrome

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

(show top 50) (show all 103)

#	Related Disease	Score	Top Affiliating Genes
1	adams-oliver syndrome 1	34.2	DOCK6 ARHGAP31
2	adams-oliver syndrome 5	33.8	NOTCH1 MIR4673
3	adams-oliver syndrome 2	33.8	LOC105372273 DOCK6
4	adams-oliver syndrome	29.6	UGT1A1 RBPJ NOTCH1 MIR4673 LOC105372273 ISG15
5	aortic valve disease 1	28.6	RBPJ NOTCH1 DOCK6 DLL4 ARHGAP31
6	adams-oliver syndrome 3	12.7
7	adams-oliver syndrome 4	12.7
8	adams-oliver syndrome 6	12.7
9	oliver-mcfarlane syndrome	12.0
10	aplasia cutis congenita, nonsyndromic	11.8
11	ohdo syndrome, sbbys variant	11.6
12	polymicrogyria	11.5
13	autosomal dominant deafness-onychodystrophy syndrome	11.2
14	cutis marmorata telangiectatica congenita	10.3
15	brachydactyly	10.2
16	microcephaly	10.1
17	portal hypertension	10.0
18	telangiectasis	10.0
19	hepatoportal sclerosis	10.0
20	polymicrogyria with or without vascular-type ehlers-danlos syndrome	10.0
21	pulmonary hypertension	10.0
22	heart septal defect	10.0
23	cataract	10.0
24	alopecia	10.0
25	hajdu-cheney syndrome	9.9	RBPJ NOTCH1
26	poland syndrome	9.9
27	retinal detachment	9.9
28	chromosome 2q35 duplication syndrome	9.9
29	varicose veins	9.9
30	cryptorchidism, unilateral or bilateral	9.9
31	aortic valve disease 2	9.9
32	alacrima, achalasia, and mental retardation syndrome	9.9
33	esophageal varix	9.9
34	clubfoot	9.9
35	oligohydramnios	9.9
36	periventricular leukomalacia	9.9
37	atrial heart septal defect	9.9
38	hypotonia	9.9
39	cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1	9.8	RBPJ NOTCH1 DLL4
40	alagille syndrome 1	9.8	RBPJ NOTCH1 DLL4
41	spondylocostal dysostosis 3, autosomal recessive	9.7	RBPJ NOTCH1
42	atrial standstill 1	9.7
43	clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	9.7
44	optic nerve hypoplasia, bilateral	9.7
45	pseudopapilledema	9.7
46	dowling-degos disease 1	9.7
47	septooptic dysplasia	9.7
48	neural tube defects	9.7
49	strabismus	9.7
50	tetralogy of fallot	9.7

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

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Symptoms & Phenotypes for Oliver Syndrome

Human phenotypes related to Oliver Syndrome:

⁵⁸ ³¹ (show all 27)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	postaxial hand polydactyly ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0001162
2	intellectual disability, profound ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0002187
3	mandibular prognathia ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000303
4	absent speech ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001344
5	short toe ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001831
6	cutaneous finger syndactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010554
7	postaxial foot polydactyly ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001830
8	poor speech ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0002465
9	bilateral tonic-clonic seizure ³¹	frequent (33%)		HP:0002069
10	scoliosis ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002650
11	dental malocclusion ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000689
12	microcephaly ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000252
13	thick eyebrow ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000574
14	intrauterine growth retardation ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001511
15	high palate ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000218
16	hyperconvex fingernails ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001812
17	elbow flexion contracture ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002987
18	clinodactyly of the 5th finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0004209
19	small earlobe ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000385
20	short philtrum ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000322
21	camptodactyly of finger ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0100490
22	supernumerary nipple ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0002558
23	knee flexion contracture ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0006380
24	absent earlobe ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000387
25	prominent fingertip pads ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001212
26	intellectual disability ³¹			HP:0001249
27	generalized tonic-clonic seizures ⁵⁸		Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

⁵⁶

Limbs:
postaxial polydactyly

Neuro:
mental retardation

Clinical features from OMIM:

258200

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Drugs & Therapeutics for Oliver Syndrome

Search Clinical Trials , NIH Clinical Center for Oliver Syndrome

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Genetic Tests for Oliver Syndrome

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Anatomical Context for Oliver Syndrome

MalaCards organs/tissues related to Oliver Syndrome:

⁴⁰

Brain, Bone, Heart, Eye, Skin

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Publications for Oliver Syndrome

Articles related to Oliver Syndrome:

(show top 50) (show all 185)

#	Title	Authors	PMID	Year
1	Report of a third family with Oliver syndrome. ⁶¹ ⁵⁶	Salpietro CD...Dallapiccola B	16278897	2005
2	Adams Oliver syndrome: A mimicker of familial exudative vitreoretinopathy. ⁶¹	Alsulaiman AM...Alsulaiman SM	32420513	2020
3	Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy. ⁶¹	Naravane AV...Quiram PA	32522703	2020
4	A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2. ⁶¹	Alzahem T...Alsulaiman SM	32498638	2020
5	Pleiotropic Role of Notch Signaling in Human Skin Diseases. ⁶¹	Gratton R...Crovella S	32545758	2020
6	Novel In-Frame Deletion Mutation in NOTCH1 in a Chinese Sporadic Case of Adams-Oliver Syndrome. ⁶¹	Huang S...Wu Y	32129674	2020
7	Multiple Aplasia Cutis Congenita Lesions of the Scalp: A Case Study. ⁶¹	Whalen M	32317338	2020
8	Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants. ⁶¹	Chapman G...Dunwoodie SL	31813956	2020
9	Treatment of a Large Skull Defect and Brain Herniation in a Newborn With Adams-Oliver Syndrome. ⁶¹	Wehrens KM...Van der Hulst R	32211278	2020
10	Expanding the phenotype in Adams-Oliver syndrome correlating with the genotype. ⁶¹	Dudoignon B...Baujat G	31654484	2020
11	Adams-Oliver syndrome caused by mutations of the EOGT gene. ⁶¹	Schroder KC...Zenker M	31368252	2019
12	Ocular Manifestations of Cutis Marmorata Telangiectatica Congenita. ⁶¹	Dedania VS...Besirli CG	31147303	2019
13	Familial aggregation of "apple peel" intestinal atresia and cardiac left-sided obstructive lesions: A possible causal relationship with NOTCH1 gene mutations. ⁶¹	Digilio MC...Dallapiccola B	31111652	2019
14	A novel DLL4 missense mutation in a Chinese patient with Adams-Oliver syndrome. ⁶¹	Yu X...Zhang X	31261205	2019
15	Novel compound heterozygous mutations of the DOCK6 gene in a familial case of Adams-Oliver syndrome 2. ⁶¹	Wang Z...Shixiu Liao	30898718	2019
16	Structure and function of extracellular O-GlcNAc. ⁶¹	Ogawa M...Okajima T	30669087	2019
17	Mechanism of cell-intrinsic adaptation to Adams-Oliver Syndrome gene DOCK6 disruption highlights ubiquitin-like modifier ISG15 as a regulator of RHO GTPases. ⁶¹	Cerikan B...Schiebel E	28287327	2019
18	[Analysis of DOCK6 gene mutation in a child affected with Adams-Oliver syndrome type 2]. ⁶¹	Zhang K...Liu Y	30950023	2019
19	[Adams-Oliver syndrome and cutis marmorata telangiectatica congenita]. ⁶¹	Kojmane W...Atmani S	30638685	2019
20	Adams-Oliver Syndrome: Limited Expression. ⁶¹	Kasinathan A...Sankhyan N	29948730	2019
21	Adams-Oliver Syndrome With Moyamoya Disease for Cerebral Revascularisation Surgery. ⁶¹	Hrishi AP...Sethuraman M	29028653	2019
22	Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease. ⁶¹	Meester JAN...Loeys BL	29767458	2019
23	Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort. ⁶¹	Meester JAN...Wuyts W	29924900	2018
24	Congenital diseases caused by defective O-glycosylation of Notch receptors. ⁶¹	Tashima Y...Okajima T	30214079	2018
25	Intracranial Calcifications in Young Children. ⁶¹	Dugan SL...Bale JF	29961505	2018
26	Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype. ⁶¹	Pisciotta L...Mancardi MM	29631299	2018
27	Adams Oliver syndrome with cerebellar cortical dysplasia. ⁶¹	Tan AP...Mankad K	29680918	2018
28	Importance of complete phenotyping in prenatal whole exome sequencing. ⁶¹	Aarabi M...Rajkovic A	29392406	2018
29	CdGAP/ARHGAP31 is regulated by RSK phosphorylation and binding to 14-3-3β adaptor protein. ⁶¹	Ben Djoudi Ouadda A...Lamarche-Vane N	29545927	2018
30	Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ⁶¹	Nagasaka M...Iijima K	28839276	2017
31	Adams-Oliver Syndrome Type 2 in Association with Compound Heterozygous DOCK6 Mutations. ⁶¹	Jones KM...Levy ML	28884918	2017
32	Novel missense mutation in DLL4 in a Japanese sporadic case of Adams-Oliver syndrome. ⁶¹	Nagasaka M...Iijima K	28446798	2017
33	The scaffold protein Ajuba suppresses CdGAP activity in epithelia to maintain stable cell-cell contacts. ⁶¹	McCormack JJ...Braga VMM	28835688	2017
34	Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt. ⁶¹	Perez-Garcia C...Dominguez MC	28706620	2017
35	Use of an epidermal growth factor-infused foam dressing in a complicated case of Adams-Oliver syndrome. ⁶¹	Sezgin B...Ozmen S	28598754	2017
36	The developmental biology of genetic Notch disorders. ⁶¹	Masek J...Andersson ER	28512196	2017
37	EOGT and O-GlcNAc on secreted and membrane proteins. ⁶¹	Varshney S...Stanley P	28408480	2017
38	Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype. ⁶¹	Hassed S...Palmer S	28160419	2017
39	A Case of Adams-Oliver Syndrome. ⁶¹	Saeidi M...Ehsanipoor F	29387678	2017
40	Adams-Oliver syndrome associated with gastrointestinal malformations. ⁶¹	van Geyzel L...Duffy D	27888223	2016
41	[Aplasia cutis congenita: Update and management]. ⁶¹	Belkhou A...Guerreschi P	27503278	2016
42	Cell-Intrinsic Adaptation Arising from Chronic Ablation of a Key Rho GTPase Regulator. ⁶¹	Cerikan B...Schiebel E	27693507	2016
43	Letter regarding "Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome". ⁶¹	Southgate L	27402369	2016
44	Distal Limb Defects and Aplasia Cutis: Adams-Oliver Syndrome. ⁶¹	Renfree KJ...Dell PC	27178874	2016
45	Adams-Oliver Syndrome: A Case with Full Expression. ⁶¹	Dehdashtian A...Dehdashtian M	27433307	2016
46	Adams-Oliver Syndrome ⁶¹	Lehman A...Patel MS	27077170	2016
47	Adams-Oliver syndrome in a newborn infant. ⁶¹	Zakanj Z...Ozanic Bulic S	24697559	2016
48	DLL4 loss-of-function heterozygous mutations cause Adams-Oliver syndrome. ⁶¹	Aminkeng F	26419402	2015
49	Intracellular and extracellular O-linked N-acetylglucosamine in the nervous system. ⁶¹	Ogawa M...Okajima T	26278182	2015
50	Network-Informed Gene Ranking Tackles Genetic Heterogeneity in Exome-Sequencing Studies of Monogenic Disease. ⁶¹	Dand N...Schlitt T	26394720	2015

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Genes for Oliver Syndrome

Genes related to Oliver Syndrome (0 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NOTCH1	Notch Receptor 1	Protein Coding	41.13	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
2	EOGT	EGF Domain Specific O-Linked N-Acetylglucosamine Transferase	Protein Coding	36.71	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	DOCK6	Dedicator Of Cytokinesis 6	Protein Coding	36.58	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
4	ARHGAP31	Rho GTPase Activating Protein 31	Protein Coding	28.3	GeneCards inferred via : Disorders Publications Variants (show sections)
5	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	26.89	GeneCards inferred via : Disorders Publications Variants (show sections)
6	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	25.72	GeneCards inferred via : Disorders Publications Variants (show sections)
7	AOS	Adams-Oliver Syndrome	Genetic Locus	7.91	GeneCards inferred via : Gene name (show sections)
8	LOC105372273	Uncharacterized LOC105372273	RNA Gene	7.89	GeneCards inferred via : Variants (show sections)
9	MIR4673	MicroRNA 4673	RNA Gene	6.79	GeneCards inferred via : Variants (show sections)
10	ISG15	ISG15 Ubiquitin Like Modifier	Protein Coding	6.11	GeneCards inferred via : Publications (show sections)
11	UGT1A1	UDP Glucuronosyltransferase Family 1 Member A1	Protein Coding	6.11	GeneCards inferred via : Publications (show sections)

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Variations for Oliver Syndrome

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Expression for Oliver Syndrome

Search GEO for disease gene expression data for Oliver Syndrome.

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Pathways for Oliver Syndrome

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

(show all 13)

#	Super pathways	Score	Top Affiliating Genes
1	Notch Signaling Pathway (WikiPathways) ¹ Show member pathways Notch signaling pathway ¹ Notch signaling pathway ³⁶ Notch Signaling Pathway ¹ Notch Signaling Pathways ⁶⁴	12.19	RBPJ NOTCH1 DLL4
2	Wnt / Hedgehog / Notch ⁴	11.8	RBPJ NOTCH1 DLL4
3	Development NOTCH1-mediated pathway for NF-KB activity modulation ²² Show member pathways Development Notch Signaling Pathway ²² Transcription Sin3 and NuRD in transcription regulation ²²	11.73	RBPJ NOTCH1 DLL4
4	NOTCH2 Activation and Transmission of Signal to the Nucleus ⁶⁵ Show member pathways Activated NOTCH1 Transmits Signal to the Nucleus ⁶⁵ Constitutive Signaling by NOTCH1 HD Domain Mutants ⁶⁵ Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant ⁶⁵ NOTCH2 intracellular domain regulates transcription ⁶⁵ Signaling by NOTCH1 HD Domain Mutants in Cancer ⁶⁵ Signaling by NOTCH1 t(7;9)(NOTCH1-M1580_K2555) Translocation Mutant ⁶⁵ Signaling by NOTCH2 ⁶⁵	11.48	RBPJ NOTCH1 DLL4
5	Notch Signaling Pathway (sino) ⁶⁶	11.3	RBPJ NOTCH1
6	Notch-mediated HES/HEY network ¹	11.18	RBPJ NOTCH1
7	Th2 Differentiation ⁶⁴	11.14	RBPJ NOTCH1
8	Neural Crest Differentiation ¹	11.14	RBPJ NOTCH1 DLL4
9	Presenilin action in Notch and Wnt signaling ¹	11.12	RBPJ NOTCH1
10	G-protein signaling_Regulation of CDC42 activity ²²	10.94	DOCK6 ARHGAP31
11	Notch Signaling ⁶³	10.88	RBPJ NOTCH1
12	NOTCH1 regulation of human endothelial cell calcification ¹	10.51	NOTCH1 DLL4
13	Canonical and Non-canonical Notch signaling ¹	10.23	RBPJ NOTCH1 DLL4

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GO Terms for Oliver Syndrome

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

#	Name	GO ID	Score	Top Affiliating Genes
1	MAML1-RBP-Jkappa- ICN1 complex	GO:0002193	8.62	RBPJ NOTCH1

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

(show all 37)

#	Name	GO ID	Score	Top Affiliating Genes
1	angiogenesis	GO:0001525	9.82	RBPJ NOTCH1 DLL4
2	Notch signaling pathway	GO:0007219	9.74	RBPJ NOTCH1 DLL4
3	negative regulation of cell differentiation	GO:0045596	9.67	RBPJ NOTCH1
4	negative regulation of catalytic activity	GO:0043086	9.67	UGT1A1 NOTCH1
5	humoral immune response	GO:0006959	9.67	RBPJ NOTCH1
6	keratinocyte differentiation	GO:0030216	9.66	RBPJ NOTCH1
7	outflow tract morphogenesis	GO:0003151	9.66	RBPJ NOTCH1
8	negative regulation of cell migration involved in sprouting angiogenesis	GO:0090051	9.65	NOTCH1 DLL4
9	negative regulation of cold-induced thermogenesis	GO:0120163	9.65	RBPJ NOTCH1
10	animal organ regeneration	GO:0031100	9.65	UGT1A1 NOTCH1
11	epithelial to mesenchymal transition	GO:0001837	9.64	RBPJ NOTCH1
12	regulation of neurogenesis	GO:0050767	9.63	NOTCH1 DLL4
13	ventricular septum morphogenesis	GO:0060412	9.63	RBPJ NOTCH1
14	positive regulation of cardiac muscle cell proliferation	GO:0060045	9.62	RBPJ NOTCH1
15	positive regulation of BMP signaling pathway	GO:0030513	9.62	RBPJ NOTCH1
16	cellular response to vascular endothelial growth factor stimulus	GO:0035924	9.61	NOTCH1 DLL4
17	blood vessel remodeling	GO:0001974	9.61	RBPJ DLL4
18	aortic valve morphogenesis	GO:0003180	9.6	NOTCH1 DLL4
19	inflammatory response to antigenic stimulus	GO:0002437	9.59	RBPJ NOTCH1
20	negative regulation of ossification	GO:0030279	9.58	RBPJ NOTCH1
21	positive regulation of transcription of Notch receptor target	GO:0007221	9.58	RBPJ NOTCH1
22	positive regulation of Notch signaling pathway	GO:0045747	9.58	RBPJ NOTCH1 DLL4
23	epithelial to mesenchymal transition involved in endocardial cushion formation	GO:0003198	9.56	RBPJ NOTCH1
24	cardiac left ventricle morphogenesis	GO:0003214	9.55	RBPJ NOTCH1
25	cardiac ventricle morphogenesis	GO:0003208	9.54	NOTCH1 DLL4
26	dorsal aorta morphogenesis	GO:0035912	9.52	RBPJ DLL4
27	pericardium morphogenesis	GO:0003344	9.51	NOTCH1 DLL4
28	interleukin-4 secretion	GO:0072602	9.49	RBPJ NOTCH1
29	cardiac atrium morphogenesis	GO:0003209	9.48	NOTCH1 DLL4
30	positive regulation of transcription from RNA polymerase II promoter in response to hypoxia	GO:0061419	9.46	RBPJ NOTCH1
31	endocardium development	GO:0003157	9.43	RBPJ NOTCH1
32	auditory receptor cell fate commitment	GO:0009912	9.37	RBPJ NOTCH1
33	regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation	GO:0003256	9.32	RBPJ NOTCH1
34	blood vessel lumenization	GO:0072554	9.26	RBPJ DLL4
35	endocardium morphogenesis	GO:0003160	9.16	RBPJ NOTCH1
36	ventricular trabecula myocardium morphogenesis	GO:0003222	9.13	RBPJ NOTCH1 DLL4
37	Notch signaling involved in heart development	GO:0061314	8.8	RBPJ NOTCH1 DLL4

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

#	Name	GO ID	Score	Top Affiliating Genes
1	enzyme inhibitor activity	GO:0004857	8.96	UGT1A1 NOTCH1
2	Notch binding	GO:0005112	8.62	NOTCH1 DLL4

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Sources for Oliver Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

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¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia