Oto-Palatal-Digital Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Oto-Palatal-Digital Syndrome

MalaCards integrated aliases for Oto-Palatal-Digital Syndrome:

Name: Oto-Palatal-Digital Syndrome ¹⁹ ⁵

Oto-Palato-Digital Syndrome Type 1 ⁷¹

Type 2 ¹⁹

Classifications:

MalaCards categories:
Global: Rare diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C0265251

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Summaries for Oto-Palatal-Digital Syndrome

MalaCards based summary: Oto-Palatal-Digital Syndrome, also known as oto-palato-digital syndrome type 1, is related to frontometaphyseal dysplasia and melnick-needles syndrome. An important gene associated with Oto-Palatal-Digital Syndrome is FLNA (Filamin A). Affiliated tissues include skeletal muscle, kidney and liver.

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Related Diseases for Oto-Palatal-Digital Syndrome

Diseases related to Oto-Palatal-Digital Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3920)

#	Related Disease	Score	Top Affiliating Genes
1	frontometaphyseal dysplasia	31.0	LOC107988032 FLNA
2	melnick-needles syndrome	30.7	LOC107988032 FLNA
3	otopalatodigital syndrome, type ii	29.7	LOC107988032 FLNA
4	patent ductus arteriosus 1	28.9	LOC107988032 FLNA
5	patent foramen ovale	28.5	LOC107988032 FLNA
6	type 2 diabetes mellitus	12.1
7	diabetes mellitus	11.8
8	acoustic neuroma	11.7
9	griscelli syndrome, type 2	11.6
10	charcot-marie-tooth disease, axonal, type 2e	11.6
11	spinocerebellar ataxia 2	11.6
12	von willebrand disease, type 2	11.6
13	autoimmune polyendocrine syndrome, type ii	11.6
14	multiple endocrine neoplasia, type iia	11.6
15	bile acid synthesis defect, congenital, 2	11.5
16	immunodeficiency with hyper-igm, type 2	11.5
17	hemochromatosis type 2	11.5
18	episodic ataxia, type 2	11.5
19	spastic paraplegia 2, x-linked	11.5
20	atelosteogenesis, type ii	11.5
21	myotonic dystrophy 2	11.5
22	prediabetes syndrome	11.5
23	neurofibromatosis, type ii	11.5
24	stuve-wiedemann syndrome 1	11.5
25	waardenburg syndrome, type 2e	11.5
26	lipodystrophy, familial partial, type 2	11.5
27	gm1-gangliosidosis, type ii	11.5
28	hyperoxaluria, primary, type ii	11.5
29	hyperprolinemia, type ii	11.5
30	dentinogenesis imperfecta 1	11.5
31	generalized epilepsy with febrile seizures plus, type 2	11.5
32	ehlers-danlos syndrome, spondylodysplastic type, 2	11.5
33	pontocerebellar hypoplasia, type 2e	11.5
34	gaucher disease, type ii	11.4
35	spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	11.4
36	maturity-onset diabetes of the young, type 1	11.4
37	neuropathy, hereditary sensory and autonomic, type iia	11.4
38	mucopolysaccharidosis, type ii	11.4
39	multiple acyl-coa dehydrogenase deficiency	11.4
40	albinism, oculocutaneous, type ii	11.4
41	familial cold autoinflammatory syndrome 2	11.4
42	palmoplantar keratoderma, punctate type ii	11.4
43	cholestasis, progressive familial intrahepatic, 2	11.4
44	mohr syndrome	11.4
45	anemia, congenital dyserythropoietic, type ii	11.4
46	blepharophimosis, ptosis, and epicanthus inversus	11.4
47	anterior segment dysgenesis 4	11.4
48	rothmund-thomson syndrome, type 2	11.4
49	pseudohypoaldosteronism, type iie	11.4
50	simpson-golabi-behmel syndrome, type 2	11.4

Graphical network of the top 20 diseases related to Oto-Palatal-Digital Syndrome:

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Symptoms & Phenotypes for Oto-Palatal-Digital Syndrome

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Drugs & Therapeutics for Oto-Palatal-Digital Syndrome

Search Clinical Trials, NIH Clinical Center for Oto-Palatal-Digital Syndrome

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Genetic Tests for Oto-Palatal-Digital Syndrome

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Anatomical Context for Oto-Palatal-Digital Syndrome

Organs/tissues related to Oto-Palatal-Digital Syndrome:

MalaCards : Skeletal Muscle, Kidney, Liver, Endothelial, Heart, Bone Marrow, Brain

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Publications for Oto-Palatal-Digital Syndrome

Articles related to Oto-Palatal-Digital Syndrome:

(show top 50) (show all 30016)

#	Title	Authors	PMID	Year
1	Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function. ⁵	Oda H...Heike T	26059841	2016
2	47 patients with FLNA associated periventricular nodular heterotopia. ⁵	Lange M...Hehr U	26471271	2015
3	Combined cardiological and neurological abnormalities due to filamin A gene mutation. ⁵	de Wit MC...Mancini GM	20730588	2011
4	Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders. ⁵	Clark AR...Sutherland-Smith AJ	19773341	2009
5	Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings. ⁵	Marino-Enriquez A...Rodriguez JI	17431908	2007
6	A Japanese case of oto-palato-digital syndrome type II: an apparent lack of phenotype-genotype correlation. ⁵	Kondoh T...Moriuchi H	17264970	2007
7	Frontometaphyseal dysplasia: mutations in FLNA and phenotypic diversity. ⁵	Robertson SP...Krakow D	16835913	2006
8	Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. ⁵	Parrini E...Guerrini R	16684786	2006
9	Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. ⁵	Zenker M...Horn D	16596676	2006
10	Splicing in action: assessing disease causing sequence changes. ⁵	Baralle D...Baralle M	16199547	2005
11	Filamin A: phenotypic diversity. ⁵	Robertson SP	15917206	2005
12	Molecular pathology of filamin A: diverse phenotypes, many functions. ⁵	Robertson SP	15194946	2004
13	Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. ⁵	Robertson SP...OPD-spectrum Disorders Clinical Collaborative Group	12612583	2003
14	Chinese patients with type 2 diabetes mellitus and nonalcoholic fatty liver disease have lower serum osteocalcin levels compared to individuals with type 2 diabetes mellitus and no liver disease: a single-center cross-sectional study. ⁶²	Fu J...Xiu S	35829988	2022
15	SGLT2-inhibitors reduce the cardiac autonomic neuropathy dysfunction and vaso-vagal syncope recurrence in patients with type 2 diabetes mellitus: the SCAN study. ⁶²	Sardu C...Marfella R	35732222	2022
16	Genetic and phenotypic stability of poliovirus shed from infants who received novel type 2 or Sabin type 2 oral poliovirus vaccines in Panama: an analysis of two clinical trials. ⁶²	Wahid R...Konz JO	36332645	2022
17	Management of Hyperglycemia in Type 2 Diabetes, 2022. A Consensus Report by the American Diabetes Association (ADA) and the European Association for the Study of Diabetes (EASD). ⁶²	Davies MJ...Buse JB	36148880	2022
18	Hypoxia-driven immunosuppression by Treg and type-2 conventional dendritic cells in HCC. ⁶²	Suthen S...Chew V	35184329	2022
19	Analyzing failures in adoption of smart technologies for medical waste management systems: a type-2 neutrosophic-based approach. ⁶²	Torkayesh AE...Tirkolaee EB	34554402	2022
20	Suppression of knee joint osteoarthritis induced secondary to type 2 diabetes mellitus in rats by resveratrol: role of glycated haemoglobin and hyperlipidaemia and biomarkers of inflammation and oxidative stress. ⁶²	Ebrahim HA...Dawood AF	32497450	2022
21	Executive summary on the treatment of type 2 diabetes mellitus in elderly or frail individuals. 2022 update of the 2018 consensus document "Treatment of type 2 diabetes mellitus in the elderly". ⁶²	Gomez-Peralta F...Gomez-Huelgas R	35753941	2022
22	Banting memorial lecture 2022: 'Type 2 diabetes and nonalcoholic fatty liver disease: Partners in crime'. ⁶²	Byrne CD	35790023	2022
23	Variation in the expression level of MALAT1, MIAT and XIST lncRNAs in coronary artery disease patients with and without type 2 diabetes mellitus. ⁶²	Sohrabifar N...Jafari H	32447981	2022
24	Insulin resistance and beta-cell dysfunction in newly diagnosed type 2 diabetes: Expression, aggregation and predominance. Verona Newly Diagnosed Type 2 Diabetes Study 10. ⁶²	Bonora E...Bonadonna RC	35717608	2022
25	In vivo Imaging of Cannabinoid Type 2 Receptors: Functional and Structural Alterations in Mouse Model of Cerebral Ischemia by PET and MRI. ⁶²	Ni R...Mu L	34642898	2022
26	Efficacy and safety of tirzepatide monotherapy compared with dulaglutide in Japanese patients with type 2 diabetes (SURPASS J-mono): a double-blind, multicentre, randomised, phase 3 trial. ⁶²	Inagaki N...Seino Y	35914543	2022
27	Vaginal and Penile Microbiome Associations With Herpes Simplex Virus Type 2 in Women and Their Male Sex Partners. ⁶²	Mehta SD...Otieno F	32822500	2022
28	Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. ⁶²	Plotkin SR...Evans DG	35674741	2022
29	Type 2 diabetes mellitus in metabolic-associated fatty liver disease vs. type 2 diabetes mellitus Non-alcoholic fatty liver disease: A longitudinal cohort analysis. ⁶²	Muthiah M...Noureddin M	36182031	2022
30	Specific metabolic syndrome components predict cognition and social functioning in people with type 2 diabetes mellitus and severe mental disorders. ⁶²	Sanchez-Orti JV...Tabares-Seisdedos R	35359023	2022
31	Effect of a ketogenic diet versus Mediterranean diet on glycated hemoglobin in individuals with prediabetes and type 2 diabetes mellitus: The interventional Keto-Med randomized crossover trial. ⁶²	Gardner CD...Kim SH	35641199	2022
32	Cardiovascular outcomes with GLP-1 receptor agonists vs. SGLT-2 inhibitors in patients with type 2 diabetes. ⁶²	Norgaard CH...Lee CJ	34215881	2022
33	Enhancing type 2 diabetes treatment through digital plans of care. First results from the East Cheshire Study of an App to support people in the management of type 2 diabetes. ⁶²	Heald AH...Abraham J	35923172	2022
34	Type 2 or Non-Type 2 Asthma Exacerbations? That Is the Question. ⁶²	Hudler A...Sharma S	35584351	2022
35	Low- and middle-income countries demonstrate rapid growth of type 2 diabetes: an analysis based on Global Burden of Disease 1990-2019 data. ⁶²	Liu J...Zhang L	35587275	2022
36	Three months of melatonin treatment reduces insulin sensitivity in patients with type 2 diabetes-A randomized placebo-controlled crossover trial. ⁶²	Lauritzen ES...Stoy J	35619221	2022
37	Understanding strategies to improve medication adherence among persons with type 2 diabetes: A scoping review: Scoping review of medication adherence strategies in type 2 diabetes. ⁶²	Vallis M...Ivers NM	35996880	2022
38	One Drop Improves Productivity for Workers With Type 2 Diabetes: One Drop for Workers With Type 2 Diabetes. ⁶²	Lavaysse LM...Sears LE	35672921	2022
39	Hyperoside attenuates neuroinflammation, cognitive impairment and oxidative stress via suppressing TNF-α/NF-κB/caspase-3 signaling in type 2 diabetes rats. ⁶²	Chen X...Olatunji OJ	33722183	2022
40	Evaluation of changing the pattern of CTRP5 and inflammatory markers levels in patients with coronary artery disease and type 2 diabetes mellitus. ⁶²	Moradi N...Fallah S	32202952	2022
41	[18F]FDG and [18F]NaF as PET markers of systemic atherosclerosis progression: A longitudinal descriptive imaging study in patients with type 2 diabetes mellitus. ⁶²	Reijrink M...Slart RHJA	34519008	2022
42	Omega-3 polyunsaturated fatty acid biomarkers and risk of type 2 diabetes, cardiovascular disease, cancer, and mortality. ⁶²	Jiang H...Ma L	35830775	2022
43	Management of type 2 diabetes with the dual GIP/GLP-1 receptor agonist tirzepatide: a systematic review and meta-analysis. ⁶²	Karagiannis T...Bekiari E	35579691	2022
44	PDIA3 epitope-driven immune autoreactivity contributes to hepatic damage in type 2 diabetes. ⁶²	Clement CC...Santambrogio L	35984892	2022
45	Bidirectional causal associations between type 2 diabetes and COVID-19. ⁶²	Cao H...Zhang F	36029131	2022
46	Role of branched-chain amino acid metabolism in the pathogenesis of obesity and type 2 diabetes-related metabolic disturbances BCAA metabolism in type 2 diabetes. ⁶²	Vanweert F...Phielix E	35931683	2022
47	Association of gut microbiota with glycaemic traits and incident type 2 diabetes, and modulation by habitual diet: a population-based longitudinal cohort study in Chinese adults. ⁶²	Wang H...Zheng JS	35357559	2022
48	Pro-α-cell-derived β-cells contribute to β-cell neogenesis induced by antagonistic glucagon receptor antibody in type 2 diabetic mice. ⁶²	Cui X...Hong T	35789836	2022
49	Sodium-glucose co-transporter-2 inhibitors in patients with type 2 diabetes: Barriers and solutions for improving uptake in routine clinical practice. ⁶²	Khunti K...Fioretto P	35238129	2022
50	Evaluation of associations between estimates of particulate matter exposure and new onset type 2 diabetes in the REGARDS cohort. ⁶²	McAlexander TP...McClure LA	34657127	2022

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Genes for Oto-Palatal-Digital Syndrome

Genes related to Oto-Palatal-Digital Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FLNA	Filamin A	Protein Coding	425	Pathogenic ⁵ Likely pathogenic ⁵	12612583 15194946 15917206 (more) 16596676 16684786 16835913 17264970 17431908 19773341 20730588 26471271 16199547 26059841
2	LOC107988032	Xq28 Proximal FLNA-EMD Recombination Region	Functional Element	425	Pathogenic ⁵ Likely pathogenic ⁵

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Variations for Oto-Palatal-Digital Syndrome

ClinVar genetic disease variations for Oto-Palatal-Digital Syndrome:

⁵ (show top 50) (show all 1552)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	FLNA	NM_001110556.2(FLNA):c.3296_3304delinsTCGG (p.Gly1099fs)	INDEL	Pathogenic	662513	rs1603361195	GRCh37: X:153588859-153588867 GRCh38: X:154360491-154360499
2	FLNA	NM_001110556.2(FLNA):c.629G>T (p.Cys210Phe)	SNV	Pathogenic	11773	rs137853318	GRCh37: X:153596100-153596100 GRCh38: X:154367732-154367732
3	FLNA	NM_001110556.2(FLNA):c.6318C>G (p.Tyr2106Ter)	SNV	Pathogenic	1383677		GRCh37: X:153581201-153581201 GRCh38: X:154352833-154352833
4	FLNA	NM_001110556.2(FLNA):c.7285_7286dup (p.Gly2430fs)	DUP	Pathogenic	1399735		GRCh37: X:153578445-153578446 GRCh38: X:154350077-154350078
5	FLNA	NM_001110556.2(FLNA):c.2191_2192insGT (p.Tyr731fs)	INSERT	Pathogenic	1407335		GRCh37: X:153592478-153592479 GRCh38: X:154364110-154364111
6	FLNA	NM_001110556.2(FLNA):c.7005_7008del (p.Thr2336fs)	DEL	Pathogenic	1457183		GRCh37: X:153579964-153579967 GRCh38: X:154351596-154351599
7	FLNA	NM_001110556.2(FLNA):c.6898C>T (p.Gln2300Ter)	SNV	Pathogenic	1455761		GRCh37: X:153580261-153580261 GRCh38: X:154351893-154351893
8	FLNA	NM_001110556.2(FLNA):c.4281del (p.Tyr1428fs)	DEL	Pathogenic	1456389		GRCh37: X:153587636-153587636 GRCh38: X:154359268-154359268
9	FLNA	NM_001110556.2(FLNA):c.1907G>A (p.Trp636Ter)	SNV	Pathogenic	1457377		GRCh37: X:153593009-153593009 GRCh38: X:154364641-154364641
10	FLNA	NM_001110556.2(FLNA):c.2963_2964del (p.Asp988fs)	DEL	Pathogenic	1452088		GRCh37: X:153589919-153589920 GRCh38: X:154361551-154361552
11	FLNA	NM_001110556.2(FLNA):c.656del (p.Ser219fs)	DEL	Pathogenic	1451173		GRCh37: X:153596073-153596073 GRCh38: X:154367705-154367705
12	FLNA	NM_001110556.2(FLNA):c.3529G>T (p.Glu1177Ter)	SNV	Pathogenic	533562	rs1557177738	GRCh37: X:153588634-153588634 GRCh38: X:154360266-154360266
13	FLNA	NM_001110556.2(FLNA):c.1034G>A (p.Trp345Ter)	SNV	Pathogenic	853726	rs2067763458	GRCh37: X:153594961-153594961 GRCh38: X:154366593-154366593
14	FLNA	NM_001110556.2(FLNA):c.5760C>A (p.Cys1920Ter)	SNV	Pathogenic	856285	rs1359141531	GRCh37: X:153582022-153582022 GRCh38: X:154353654-154353654
15	FLNA	NM_001110556.2(FLNA):c.1159C>T (p.Gln387Ter)	SNV	Pathogenic	864458	rs2067760741	GRCh37: X:153594745-153594745 GRCh38: X:154366377-154366377
16	FLNA	NM_001110556.2(FLNA):c.1932_1938del (p.Val645fs)	DEL	Pathogenic	940733	rs2067741257	GRCh37: X:153592978-153592984 GRCh38: X:154364610-154364616
17	FLNA	NM_001110556.2(FLNA):c.4824C>A (p.Tyr1608Ter)	SNV	Pathogenic	959369	rs781789823	GRCh37: X:153585923-153585923 GRCh38: X:154357555-154357555
18	FLNA	NM_001110556.2(FLNA):c.2283dup (p.Asn762fs)	DUP	Pathogenic	959608	rs2067723474	GRCh37: X:153591149-153591150 GRCh38: X:154362781-154362782
19	FLNA	NM_001110556.2(FLNA):c.6586del (p.His2196fs)	DEL	Pathogenic	964600	rs2067626336	GRCh37: X:153580732-153580732 GRCh38: X:154352364-154352364
20	FLNA	NM_001110556.2(FLNA):c.1112_1113dup (p.Val372fs)	DUP	Pathogenic	1444364		GRCh37: X:153594790-153594791 GRCh38: X:154366422-154366423
21	FLNA	NM_001110556.2(FLNA):c.2751_2752dup (p.Asp918fs)	DUP	Pathogenic	1434332		GRCh37: X:153590420-153590421 GRCh38: X:154362052-154362053
22	overlap with 2 genes	NC_000023.10:g.(?_153599231)_(153609567_?)del	DEL	Pathogenic	1455467		GRCh37: X:153599231-153609567 GRCh38:
23	FLNA	NM_001110556.2(FLNA):c.1759G>T (p.Glu587Ter)	SNV	Pathogenic	1429750		GRCh37: X:153593258-153593258 GRCh38: X:154364890-154364890
24	FLNA	NM_001110556.2(FLNA):c.334_335insGAGAACGTGTCGG (p.Glu112fs)	INSERT	Pathogenic	1069630		GRCh37: X:153599279-153599280 GRCh38: X:154370911-154370912
25	FLNA	NM_001110556.2(FLNA):c.812del (p.Pro271fs)	DEL	Pathogenic	1070215		GRCh37: X:153595821-153595821 GRCh38: X:154367453-154367453
26	FLNA	NM_001110556.2(FLNA):c.2947dup (p.Val983fs)	DUP	Pathogenic	1070361		GRCh37: X:153589935-153589936 GRCh38: X:154361567-154361568
27	FLNA	NM_001110556.2(FLNA):c.6677dup (p.Gln2227fs)	DUP	Pathogenic	1071106		GRCh37: X:153580640-153580641 GRCh38: X:154352272-154352273
28	FLNA	NM_001110556.2(FLNA):c.829_835del (p.Arg276_Pro277insTer)	DEL	Pathogenic	1071650		GRCh37: X:153595798-153595804 GRCh38: X:154367430-154367436
29	FLNA	NM_001110556.2(FLNA):c.577C>T (p.Gln193Ter)	SNV	Pathogenic	1072111		GRCh37: X:153596255-153596255 GRCh38: X:154367887-154367887
30	FLNA	NM_001110556.2(FLNA):c.6329_6330del (p.Glu2110fs)	MICROSAT	Pathogenic	1072754		GRCh37: X:153581189-153581190 GRCh38: X:154352821-154352822
31	FLNA	NM_001110556.2(FLNA):c.5146del (p.Gln1716fs)	DEL	Pathogenic	1073243		GRCh37: X:153583264-153583264 GRCh38: X:154354896-154354896
32	FLNA	NM_001110556.2(FLNA):c.4138dup (p.Thr1380fs)	DUP	Pathogenic	1075693		GRCh37: X:153587855-153587856 GRCh38: X:154359487-154359488
33	FLNA	NM_001110556.2(FLNA):c.682G>T (p.Ala228Ser)	SNV	Pathogenic	1683443		GRCh37: X:153596047-153596047 GRCh38: X:154367679-154367679
34	FLNA	NM_001110556.2(FLNA):c.2761C>T (p.Arg921Ter)	SNV	Pathogenic	93752	rs398123614	GRCh37: X:153590412-153590412 GRCh38: X:154362044-154362044
35	LOC107988032, FLNA	NM_001110556.2(FLNA):c.7779_7780insTTCGGGG (p.Val2594fs)	MICROSAT	Pathogenic	453200	rs1557175195	GRCh37: X:153577381-153577382 GRCh38: X:154349013-154349014
36	LOC107988032, FLNA	NM_001110556.2(FLNA):c.7872_7873del (p.Glu2625fs)	DEL	Pathogenic	652215	rs1603358246	GRCh37: X:153577288-153577289 GRCh38: X:154348920-154348921
37	LOC107988032, FLNA	NM_001110556.2(FLNA):c.7612_7613del (p.Leu2538fs)	MICROSAT	Pathogenic	938503	rs2067602034	GRCh37: X:153577873-153577874 GRCh38: X:154349505-154349506
38	FLNA	NM_001110556.2(FLNA):c.3742C>T (p.Gln1248Ter)	SNV	Pathogenic	941466	rs2067693064	GRCh37: X:153588421-153588421 GRCh38: X:154360053-154360053
39	FLNA	NM_001110556.2(FLNA):c.6724C>T (p.Arg2242Ter)	SNV	Pathogenic	405446	rs1060500717	GRCh37: X:153580594-153580594 GRCh38: X:154352226-154352226
40	FLNA	NM_001110556.2(FLNA):c.2965C>T (p.Gln989Ter)	SNV	Pathogenic	1075551		GRCh37: X:153589918-153589918 GRCh38: X:154361550-154361550
41	FLNA	NM_001110556.2(FLNA):c.1087C>T (p.Gln363Ter)	SNV	Pathogenic	967048	rs2067761804	GRCh37: X:153594817-153594817 GRCh38: X:154366449-154366449
42	FLNA	NM_001110556.2(FLNA):c.7255C>T (p.Arg2419Ter)	SNV	Pathogenic	234717	rs782308324	GRCh37: X:153578477-153578477 GRCh38: X:154350109-154350109
43	FLNA	NM_001110556.2(FLNA):c.3596C>T (p.Ser1199Leu)	SNV	Pathogenic Pathogenic	11759	rs28935473	GRCh37: X:153588567-153588567 GRCh38: X:154360199-154360199
44	FLNA	NM_001110556.2(FLNA):c.4726G>A (p.Gly1576Arg)	SNV	Pathogenic	209154	rs797045044	GRCh37: X:153586596-153586596 GRCh38: X:154358228-154358228
45	FLNA	NM_001110556.2(FLNA):c.5217G>A (p.Thr1739=)	SNV	Pathogenic	11775	rs387907371	GRCh37: X:153583193-153583193 GRCh38: X:154354825-154354825
46	FLNA	NM_001110556.2(FLNA):c.760G>A (p.Glu254Lys)	SNV	Pathogenic Pathogenic	11756	rs28935470	GRCh37: X:153595873-153595873 GRCh38: X:154367505-154367505
47	FLNA	NM_001110556.2(FLNA):c.586C>T (p.Arg196Trp)	SNV	Pathogenic Pathogenic	11772	rs137853317	GRCh37: X:153596246-153596246 GRCh38: X:154367878-154367878
48	FLNA	NM_001110556.2(FLNA):c.3557C>T (p.Ser1186Leu)	SNV	Pathogenic Pathogenic	11761	rs137853312	GRCh37: X:153588606-153588606 GRCh38: X:154360238-154360238
49	FLNA	NM_001110556.2(FLNA):c.3668C>T (p.Pro1223Leu)	SNV	Pathogenic	405445	rs1060500716	GRCh37: X:153588495-153588495 GRCh38: X:154360127-154360127
50	FLNA	NM_001110556.2(FLNA):c.5988_5989del (p.Cys1997fs)	DEL	Pathogenic	405447	rs1060500718	GRCh37: X:153581697-153581698 GRCh38: X:154353329-154353330

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Expression for Oto-Palatal-Digital Syndrome

Search GEO for disease gene expression data for Oto-Palatal-Digital Syndrome.

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Pathways for Oto-Palatal-Digital Syndrome

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GO Terms for Oto-Palatal-Digital Syndrome

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Sources for Oto-Palatal-Digital Syndrome

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: OTP003 MIFTS: 36	Oto-Palatal-Digital Syndrome Categories: Rare diseases	Data Licensing For inquiries, contact: [email protected]
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