Treacher Collins Syndrome malady

NIH Rare Diseases: Treacher Collins syndrome is a condition that affects the development of bones and other tissues in the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Mutations in the TCOF1 gene cause Treacher Collins syndrome. This condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. About 60 percent of cases result from new mutations in the TCOF1 gene.³⁰

MalaCards: Treacher Collins Syndrome, also known as mandibulofacial dysostosis, is related to choanal atresia and goldenhar syndrome. An important gene associated with Treacher Collins Syndrome is TCOF1 (Treacher Collins-Franceschetti syndrome 1), and among its related pathways are RNA Polymerase I Transcription Initiation and Cell adhesion Gap junctions. The compounds Alpha-Hydroxy-Beta-Phenyl-Propionic Acid and 5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole have been mentioned in the context of this disorder.

Genetics Home Reference: Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.¹⁷

GeneReviews summary for tcs

Aliases & Descriptions:

treacher collins syndrome 6 44 15 30 16 17 8 32 mandibulofacial dysostosis 6 15 30 16 treacher collins-franceschetti syndrome 15 30 16 craniofacial dysostosis 17 43 franceschetti-zwahlen-klein syndrome 17 mandibulofacial dysostosis (mfd1) 17 franceschetti-klein syndrome 43

zygoauromandibular dysplasia 17 franceschetti syndrome 6 dysostoses 43 dysplasia 43 tcof 30 mfd1 30 tcs 30

Disease types for treacher collins syndrome family:

treacher collins syndrome 3

Diseases related to treacher collins syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 935)

id	Related Disease	Score	Top Affiliating Genes
1	choanal atresia	31.5	EFTUD2, TCOF1, HOXA2
2	goldenhar syndrome	30.9	NKX3-2, TCOF1, NDST1, MSX2
3	cleft palate	30.1	POLR1D, POLR1C, TCOF1, RPL11, RPL5, RPL35A
4	carcinoma	22.9	PITX1, RPL15, RPL8, RPL7, RPL31, RPL10
5	anemia	22.0	NPM1, TOP1, RPL10A, RPL11, RPL15, RPS16
6	prostatitis	18.9	RPS8, RPS16, RPL4, RPL10, RPL30, RPL14
7	malaria	16.2	RPL11, RPL10, RPL35A, RPL30, RPL14, RPS14
8	macrocytic anemia	13.4	RPL11, RPL5, RPL35A, RPS14
9	pierre robin sequence	13.3	RPL11, RPL5, RPL35A
10	diamond-blackfan anemia	12.6	RPL10A, RPL11, RPL15, RPL8, RPS16, RPL5
11	werner syndrome	11.9	POLR1C, DHX9, TOP1, YBX1, NCL
12	hepatitis c	11.1	NPM1, POLR1C, DHX9, PITX1, RPL18A, NOLC1
13	colon adenocarcinoma	11.0	EEF2, LYAR, NPM1, TOP1, DDX21, HNRNPA1
14	metastasis efficiency	11.0	H1FX, NCL, ILF3, HNRNPA1, LUC7L2, LYAR
15	herpes simplex	10.9	EFTUD2, SLC25A5, NPM1, POLR1C, CSNK2A2, NR3C1
16	ectodermal dysplasia	10.4
17	multiple epiphyseal dysplasia	9.7
18	hypohidrotic ectodermal dysplasia	9.6
19	bronchopulmonary dysplasia	9.6
20	cleidocranial dysplasia	9.4
21	polr1d-related treacher collins syndrome	9.3
22	tcof1-related treacher collins syndrome	9.3
23	crouzon syndrome	9.3
24	spondyloepiphyseal dysplasia	9.2
25	epiphyseal dysplasia	9.1
26	thanatophoric dysplasia	9.1
27	squamous cell carcinoma	9.0
28	campomelic dysplasia	9.0
29	polr1c-related treacher collins syndrome	8.9
30	treacher collins syndrome 3	8.9
31	oculodentodigital dysplasia	8.8
32	diastrophic dysplasia	8.8
33	prostate carcinoma	8.7	RPL14, RPL30, RPL4, RPS16, RPS8, TOP1
34	arrhythmogenic right ventricular dysplasia	8.6
35	x-linked spondyloepiphyseal dysplasia tarda	8.5
36	familial treacher collins syndrome	8.4
37	kniest dysplasia	8.3
38	spondyloepimetaphyseal dysplasia, strudwick type	8.3
39	spondyloepiphyseal dysplasia tarda	8.3
40	dentin dysplasia	8.2
41	otospondylomegaepiphyseal dysplasia	8.2
42	focal cortical dysplasia	8.1
43	craniometaphyseal dysplasia	8.1
44	pseudoachondroplasia	8.1
45	spondyloepiphyseal dysplasia congenita	8.0
46	craniofacial dysostosis arthrogryposis progeroid appearence	8.0
47	craniofacial dysostosis with diaphyseal hyperplasia	8.0
48	barrett's esophagus	8.0
49	thyroiditis	8.0
50	septooptic dysplasia	7.9

Approved drugs:

Drug clinical trials:

Genetic tests related to treacher collins syndrome:

id	Genetic test	Affiliating Genes
1	Treacher Collins Syndrome clinical/research	POLR1C, POLR1D, TCOF1

Articles related to treacher collins syndrome:

(show all 46)

id	Title	Authors	Year	Affiliating Genes
1	Novel mutations of TCOF1 gene in European patients wi th Treacher Collins syndrome. (21951868)	Conte C.... Novelli G.	2011	TCOF1
2	Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. (21131976)	Dauwerse J.G.... Wieczorek D.	2011	POLR1C, POLR1D
3	Treacher Collins syndrome: etiology, pathogenesis and prevention. (19107148)	Trainor P.A.... Dixon M.J.	2009	TCOF1
4	Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene. (19050407)	Li C.... Bourgeois J.	2009	TCOF1
5	Treacher Collins syndrome: unmasking the role of Tcof 1/treacle. (19027870)	Sakai D.... Trainor P.A.	2009	TCOF1
6	Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. (19334086)	Wieczorek D.... Lohmann D.R.	2009	TCOF1
7	A synonymous mutation in TCOF1 causes Treacher Collin s syndrome due to mis-splicing of a constitutive exon. (19572402)	Macaya D.... Cutting G.R.	2009	TCOF1
8	Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. (18246078)	Jones N.C.... Trainor P.A.	2008	TCOF1
9	Mutations and new polymorphic changes in the TCOF1 gene of patients with oculo-auriculo-vertebral spectrum and Treacher-Collins syndrome. (17786119)	Su P.H.... Chen H.N.	2007	TCOF1
10	Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial (18236814)	Chaabouni M.... Chaabouni H.	2007	TCOF1
11	Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene. (16801042)	Su P.H.... Yu J.S.	2006	TCOF1
12	Treacher Collins syndrome: case report and literature review (16981466)	Hao J.... Wang J.	2006	TCOF1
13	Cloning and functional characterization of the Xenopus orthologue of the Treacher Collins syndrome (TCOF1) gene product. (16125876)	Gonzales B.... Valdez B.C.	2005	TCOF1
14	The Treacher Collins syndrome (TCOF1) gene product is involved in pre-rRNA methylation. (15930015)	Gonzales B.... Valdez B.C.	2005	FBL, TCOF1, UBTF
15	Mutational analysis of the TCOF1 gene in 11 Japanese patients with Treacher Collins Syndrome and mechanism of mutagenesis. (15759264)	Horiuchi K.... Sakiyama Y.	2005	TCOF1
16	Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation. (15340364)	Teber O.A.... Wieczorek D.	2004	TCOF1
17	Mosaicism of a TCOF1 mutation in an individual clinically unaffected with Treacher Collins syndrome. (15039977)	Shoo B.A.... Jabs E.W.	2004	TCOF1
18	Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1. (15214011)	Horiuchi K.... Sugihara T.	2004	TCOF1
19	Another face of the Treacher Collins syndrome (TCOF1) gene: identification of additional exons. (15019983)	So R.B.... Valdez B.C.	2004	TCOF1
20	Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome. (15150774)	Dixon J.... Dixon M.J.	2004	TCOF1
21	The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor. (15249688)	Valdez B.C.... Dixon M.J.	2004	TCOF1, UBTF
22	Novel mutation in the 5' splice site of exon 4 of the TCOF1 gene in the patient with Treacher Collins syndrome. (14598341)	Marszalek B.... Trzeciak W.H.	2003	TCOF1
23	Analysis of TCOF1 gene of eight Japanese patients with Treacher Collins syndrome (14531285)	Horiuchi K.	2003	TCOF1
24	Proteomic analysis of human Nop56p-associated pre-ribosomal ribonucleoprotein complexes. Possible link between Nop56p and the nucleolar protein treacle responsible for Treacher Collins syndrome. (12777385)	Hayano T.... Takahashi N.	2003	EEF2, TOP1, RPL5
25	Mutation testing in Treacher Collins Syndrome. (12444270)	Ellis P.E.... Dixon M.J.	2002	TCOF1
26	Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. (10982400)	Isaac C.... Meier U.T.	2000	CSNK2A2, TCOF1, NOLC1
27	Increased levels of apoptosis in the prefusion neural folds underlie the craniofacial disorder, Treacher Collins syndrome. (10888597)	Dixon J.... Dixon M.J.	2000	TCOF1
28	High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. (11013442)	Splendore A.... Passos-Bueno M.R.	2000	TCOF1
29	Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. (10545604)	Jones N.C.... Newgreen D.F.	1999	TCOF1
30	Mutations in the Treacher Collins syndrome gene lead to mislocalization of the nucleolar protein treacle. (9736782)	Marsh K.L.... Dixon M.J.	1998	TCOF1
31	The Treacher Collins syndrome (TCOF1) gene product, treacle, is targeted to the nucleolus by signals in its C-terminus. (9811939)	Winokur S.T.... Shiang R.	1998	TCOF1
32	The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon. (9042910)	Edwards S.J.... Dixon M.J.	1997	TCOF1
33	Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. (9074926)	Dixon J.... Dixon M.J.	1997	TCOF1
34	Human and murine PTX1/Ptx1 gene maps to the region for Treacher Collins syndrome. (9337397)	Crawford M.J.... Drouin J.	1997	PITX1
35	TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. (9096354)	Wise C.A.... Jabs E.W.	1997	TCOF1
36	Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. (8838814)	Gladwin A.J.... Dixon M.J.	1996	NDST1
37	Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. (8563749)	Dixon J.... Wasmuth J.J.	1996	TCOF1, CDX1
38	Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. (8894686)	Gladwin A.J.... Dixon M.J.	1996	TCOF1
39	Cloning of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32- q33.1. (7601448)	Dixon J.... Dixon M.J.	1995	NDST1
40	Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. (8488840)	Dixon M.J.... Landes G.M.	1993	TCOF1
41	Treacher Collins Syndrome (20301704)	Huston Katsanis S.... Cutting G.R.	1993	TTN, TCOF1, POLR1C
42	Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. (8276417)	Jabs E.W.... Brown K.	1993	NR3C1, TCOF1
43	A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. (8281138)	Loftus S.K.... Dixon M.J.	1993	TCOF1
44	Genetic and physical mapping of the Treacher Collins syndrome locus: refinement of the localization to chromosome 5q32-33.2. (1303194)	Dixon M.J.... Landes G.M.	1992	TCOF1
45	Mapping the Treacher Collins syndrome locus to 5q31.3----q33.3. (1765376)	Jabs E.W.... Weber J.L.	1991	TCOF1
46	The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. (1676560)	Dixon M.J.... Williamson R.	1991	MYOT

Genes related to treacher collins syndrome according to GeneCards:

(show top 50)    (show all 94)

id	Symbol	Description	Score	GeneCards Section Context
1	TCOF1	Treacher Collins-Franceschetti syndrome 1	11.1	Disorders, Publications, Aliases & Descriptions, Domains & Families (show all 5 sections) Summaries
2	POLR1D	polymerase (RNA) I polypeptide D, 16kDa	11.1	Summaries, Publications
3	POLR1C	polymerase (RNA) I polypeptide C, 30kDa	11.1	Summaries, Publications
4	NDST1	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	11.0	Publications, Disorders
5	NR3C1	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	11.0	Publications
6	HLA-DPB2	major histocompatibility complex, class II, DP beta 2 (pseudogene)	11.0	Disorders
7	PPAN	peter pan homolog (Drosophila)	11.0	Publications
8	PYGO2	pygopus homolog 2 (Drosophila)	11.0	Disorders
9	NKX3-2	NK3 homeobox 2	11.0
10	HIST1H2BM	histone cluster 1, H2bm	11.0	Publications
11	ZFP161	zinc finger protein 161 homolog (mouse)	11.0	Disorders
12	H1FX	H1 histone family, member X	11.0	Publications
13	SRP14	signal recognition particle 14kDa (homologous Alu RNA binding protein)	11.0	Publications
14	PITX1	paired-like homeodomain 1	11.0	Publications
15	RPL14	ribosomal protein L14	11.0	Publications
16	RPS16	ribosomal protein S16	11.0	Publications
17	RPS8	ribosomal protein S8	11.0	Publications
18	RPL17	ribosomal protein L17	11.0	Publications
19	NHP2L1	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	11.0	Publications
20	UBTF	upstream binding transcription factor, RNA polymerase I	11.0	Publications
21	RPL9	ribosomal protein L9	11.0	Publications
22	RPL15	ribosomal protein L15	11.0	Publications
23	RPL10A	ribosomal protein L10a	11.0	Publications
24	RPL18A	ribosomal protein L18a	11.0	Publications
25	RPL30	ribosomal protein L30	11.0	Publications
26	RPL35A	ribosomal protein L35a	11.0	Publications
27	HIST1H1D	histone cluster 1, H1d	11.0	Publications
28	HOXA2	homeobox A2	11.0	Disorders
29	RPL10	ribosomal protein L10	11.0	Publications
30	RBM28	RNA binding motif protein 28	11.0	Publications
31	RPL6	ribosomal protein L6	11.0	Publications
32	RPL7	ribosomal protein L7	11.0	Publications
33	RPS4X	ribosomal protein S4, X-linked	11.0	Publications
34	RPL21	ribosomal protein L21	11.0	Publications
35	RPL23	ribosomal protein L23	11.0	Publications
36	RPL18	ribosomal protein L18	11.0	Publications
37	RPL26	ribosomal protein L26	11.0	Publications
38	RPL27A	ribosomal protein L27a	11.0	Publications
39	RPL13A	ribosomal protein L13a	11.0	Publications
40	RPS9	ribosomal protein S9	11.0	Publications
41	TUBA1A	tubulin, alpha 1a	11.0	Publications
42	LYAR	Ly1 antibody reactive homolog (mouse)	11.0	Publications
43	NOP56	NOP56 ribonucleoprotein homolog (yeast)	11.0	Publications
44	NOP58	NOP58 ribonucleoprotein homolog (yeast)	11.0	Publications
45	NAP1L1	nucleosome assembly protein 1-like 1	11.0	Publications
46	CDX1	caudal type homeobox 1	11.0	Publications
47	MYOT	myotilin	11.0	Publications
48	ACTG2	actin, gamma 2, smooth muscle, enteric	11.0	Publications
49	TUBB1	tubulin, beta 1 class VI	11.0	Publications
50	RPL5	ribosomal protein L5	11.0	Publications

Pathways related to treacher collins syndrome according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	RNA Polymerase I Transcription Initiation38	10.3	UBTF, POLR1C, POLR1D
2	Cell adhesion Gap junctions10	10.1	TUBA1A, TUBB1, ACTA2, ACTG2
3	Metabolism of mRNA38	9.9	RPS8, RPS16, RPS4X, RPS14, RPS9
4	Ribosome biogenesis in eukaryotes20	9.9	NHP2L1, CSNK2A2, TCOF1, NOP58, NOP56, GNL3
5	Spliceosome20	8.8	EFTUD2, NHP2L1, HNRNPU, HNRNPM, HNRNPA1, U2AF2
6	Translational Control3	8.5	EEF2, EEF1A1, RPL13A, RPL26, HNRNPA1, IGF2BP1
7	Metabolism of RNA38	8.4	RPL27A, RPL3, RPL17, RPL18, RPL6, RPL21
8	Processing of Capped Intron-Containing Pre-mRNA38	8.4	EFTUD2, NHP2L1, DHX9, HNRNPU, HNRNPM, HNRNPA1
9	Ribosome20	8.2	RPL35A, RPL8, RPL15, RPL11, RPL18A, RPS8
10	CFTR translational fidelity (class I mutations)41	8.1	RPL27A, RPL30, RPL35A, RPL10, RPL23, RPL4

Compounds related to treacher collins syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	Alpha-Hydroxy-Beta-Phenyl-Propionic Acid9 9	10.7	NHP2L1, RPL11, RPL15, RPL8, RPL13A, RPL23A
2	5,6-dichloro-1-beta-d-ribofuranosylbenzimidazole32	9.6	CSNK2A2, POLR1C, NPM1
3	anisomycin32 42 9 9	12.3	EEF2, NHP2L1, RPL11, RPL15, RPL8, RPL13A
4	poly u32	9.0	EEF2, EEF1A1, DHODH, U2AF2
5	puromycin32 9 9	10.6	RPL3, EEF2, EEF1A1, NHP2L1, RPL11, RPL15
6	rrna32	8.6	EEF1A1, NPM1, POLR1C, TCOF1, RPL11, RPL5
7	actinomycin d32	8.2	NPM1, POLR1C, DHX9, TOP1, NOLC1, NR3C1

Cellular components related to treacher collins syndrome according to GeneDecks:

(show all 13)

id	Name	GO ID	Score	Top Affiliating Genes
1	box C/D snoRNP complex	GO:031428	10.4	NHP2L1, NOP58, NOP56, FBL
2	cytosolic small ribosomal subunit	GO:022627	10.3	RPS8, RPS16, RPS4X, RPS14, RPS9
3	ribosome	GO:005840	10.2	RPL15, RPS4X, RPL23, RPL9, RPS9
4	Cajal body	GO:015030	9.5	EFTUD2, NOP58, NOLC1, FBL, U2AF1
5	CRD-mediated mRNA stability complex	GO:070937	9.4	YBX1, IGF2BP1, HNRNPU, DHX9
6	spliceosomal complex	GO:005681	9.3	EFTUD2, NHP2L1, HNRNPM, HNRNPA1, U2AF2, U2AF1
7	catalytic step 2 spliceosome	GO:071013	9.0	U2AF1, HNRNPA1, HNRNPM, HNRNPU, EFTUD2
8	cytosolic large ribosomal subunit	GO:022625	8.5	RPL27A, RPL3, RPL17, RPL18, RPL6, RPL12
9	ribonucleoprotein complex	GO:030529	7.4	ILF3, IGF2BP1, HNRNPA1, HNRNPU, RPS9, RPL4
10	nucleoplasm	GO:005654	7.0	TOP1, DHX9, POLR1C, POLR1D, NPM1, NHP2L1
11	cytosol	GO:005829	5.7	IGF2BP1, RPL30, RPL35A, RPL10, RPL23, RPL4
12	nucleolus	GO:005730	5.0	RPL3, EFTUD2, EBNA1BP2, LYAR, RPS9, RPL9
13	nucleus	GO:005634	3.7	TCOF1, TOP1, HIST1H2BM, RPL5, RPL23A, RPL4

Biological processes related to treacher collins syndrome according to GeneDecks:

(show all 20)

id	Name	GO ID	Score	Top Affiliating Genes
1	transcription elongation from RNA polymerase I promoter	GO:006362	10.4	UBTF, POLR1C, POLR1D
2	ribosomal large subunit biogenesis	GO:042273	10.2	RPL11, RPL5, RPL7, RPL35A, RPL14, RPL26
3	rRNA processing	GO:006364	9.9	RPL11, RPS16, RPL5, RPL7, RPL35A, RPL14
4	nucleosome assembly	GO:006334	9.4	H1FX, NPM1, HIST1H2BM, HIST1H1D, NAP1L1
5	CRD-mediated mRNA stabilization	GO:070934	9.2	DHX9, HNRNPU, IGF2BP1, YBX1
6	translational initiation	GO:006413	8.3	RPS16, RPL8, RPL15, RPL11, RPL18A, RPS8
7	translational termination	GO:006415	8.3	RPL13, RPL26, RPS14, RPL14, RPL30, RPL35A
8	RNA metabolic process	GO:016070	8.3	RPL6, RPS9, RPL12, RPL9, RPL13, RPL26
9	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	GO:000184	8.3	RPL3, RPL4, RPS4X, RPL31, RPL21, RPL23A
10	RNA splicing	GO:008380	8.3	EFTUD2, NHP2L1, DHX9, PPAN, HNRNPU, HNRNPM
11	viral infectious cycle	GO:019058	8.3	RPL13, RPL5, RPS16, RPL8, RPL15, RPL11
12	viral transcription	GO:019083	8.3	RPL27A, RPL3, RPL17, RPL18, RPL6, RPL21
13	mRNA metabolic process	GO:016071	8.2	RPL27A, RPL3, RPL17, RPL18, RPL6, RPS9
14	SRP-dependent cotranslational protein targeting to membrane	GO:006614	8.2	RPL26, RPS16, RPL8, RPL15, RPL11, RPL18A
15	nuclear mRNA splicing, via spliceosome	GO:000398	8.2	EFTUD2, NHP2L1, DHX9, HNRNPU, HNRNPM, HNRNPA1
16	viral reproduction	GO:016032	8.1	RPL27A, RPL3, RPL17, RPL18, RPL6, RPS9
17	translation	GO:006412	7.1	RPL14, RPL30, RPL35A, RPL10, RPL23, RPL4
18	cellular protein metabolic process	GO:044267	6.9	RPL18, RPL31, RPL21, RPL23A, RPL13A, RPL7
19	translational elongation	GO:006414	6.9	RPL6, RPS9, RPL12, RPL9, RPL13, RPL26
20	gene expression	GO:010467	4.8	UBTF, RPL12, RPL9, RPL13, RPL26, RPS14

Molecular functions related to treacher collins syndrome according to GeneDecks:

(show all 8)

id	Name	GO ID	Score	Top Affiliating Genes
1	snoRNA binding	GO:030515	10.2	NOP56, NOP58, NHP2L1
2	rRNA binding	GO:019843	10.0	RPL11, RPL8, RPL23A, RPS4X, RPL9, RPS9
3	translation regulator activity	GO:045182	10.0	RPS14, RPS9, IGF2BP1
4	double-stranded RNA binding	GO:003725	9.2	DHX9, DDX21, ILF3, ILF2
5	translation elongation factor activity	GO:003746	9.2	TUFM, EEF1A1, EEF2
6	structural constituent of ribosome	GO:003735	8.2	RPL10A, RPL14, RPS14, RPL26, RPL13, RPL9
7	RNA binding	GO:003723	6.1	NHP2L1, NPM1, RPL10A, NCL, RPL18, RPL3
8	protein binding	GO:005515	2.9	RPL15, RPL5, RPL23A, RPL14, RPL13, RPS9