Retinitis Pigmentosa 14 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

UniProtKB/Swiss-Prot: ⁷³ A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.

MalaCards based summary: Retinitis Pigmentosa 14, also known as rp14, is related to leber congenital amaurosis 15 and mitochondrial dna-associated leigh syndrome. An important gene associated with Retinitis Pigmentosa 14 is TULP1 (TUB Like Protein 1), and among its related pathways/superpathways are Regulation of expression of SLITs and ROBOs and rRNA processing in the nucleus and cytosol. Affiliated tissues include retina, eye and bone, and related phenotypes are nystagmus and reduced visual acuity

Disease Ontology: ¹¹ A retinitis pigmentosa that has material basis in mutation in the TULP1 gene on chromosome 6p21.

More information from OMIM: 600132 PS268000

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Related Diseases for Retinitis Pigmentosa 14

Diseases in the Retinitis Pigmentosa family:

Retinitis Pigmentosa 91	Retinitis Pigmentosa 1
Retinitis Pigmentosa 9	Retinitis Pigmentosa 10
Retinitis Pigmentosa, Late-Adult Onset	Retinitis Pigmentosa 3
Retinitis Pigmentosa 24	Retinitis Pigmentosa 23
Retinitis Pigmentosa 34	Retinitis Pigmentosa 2
Retinitis Pigmentosa 6	Retinitis Pigmentosa 13
Retinitis Pigmentosa 12	Retinitis Pigmentosa 14
Retinitis Pigmentosa 11	Retinitis Pigmentosa 17
Retinitis Pigmentosa 18	Retinitis Pigmentosa 19
Retinitis Pigmentosa 22	Retinitis Pigmentosa 25
Retinitis Pigmentosa 28	Retinitis Pigmentosa 30
Retinitis Pigmentosa 7	Retinitis Pigmentosa 26
Retinitis Pigmentosa 32	Retinitis Pigmentosa 31
Retinitis Pigmentosa 35	Retinitis Pigmentosa 33
Retinitis Pigmentosa 36	Retinitis Pigmentosa 37
Retinitis Pigmentosa 41	Retinitis Pigmentosa 29
Retinitis Pigmentosa 46	Retinitis Pigmentosa 42
Retinitis Pigmentosa 50	Retinitis Pigmentosa 54
Retinitis Pigmentosa 51	Retinitis Pigmentosa 55
Retinitis Pigmentosa 56	Retinitis Pigmentosa 57
Retinitis Pigmentosa 58	Retinitis Pigmentosa 4
Retinitis Pigmentosa 27	Retinitis Pigmentosa 49
Retinitis Pigmentosa 47	Retinitis Pigmentosa 45
Retinitis Pigmentosa 44	Retinitis Pigmentosa 20
Retinitis Pigmentosa 40	Retinitis Pigmentosa 39
Retinitis Pigmentosa 43	Retinitis Pigmentosa 48
Retinitis Pigmentosa 59	Retinitis Pigmentosa 38
Retinitis Pigmentosa 60	Retinitis Pigmentosa 61
Retinitis Pigmentosa 62	Retinitis Pigmentosa 63
Retinitis Pigmentosa 66	Retinitis Pigmentosa 67
Retinitis Pigmentosa 68	Retinitis Pigmentosa 69
Retinitis Pigmentosa 70	Retinitis Pigmentosa 71
Retinitis Pigmentosa 72	Retinitis Pigmentosa 73
Retinitis Pigmentosa 74	Retinitis Pigmentosa 75
Retinitis Pigmentosa 76	Retinitis Pigmentosa 77
Retinitis Pigmentosa 78	Retinitis Pigmentosa 79
Retinitis Pigmentosa 80	Retinitis Pigmentosa 81
Retinitis Pigmentosa 83	Retinitis Pigmentosa 84
Retinitis Pigmentosa 85	Retinitis Pigmentosa 86
Retinitis Pigmentosa 88	Retinitis Pigmentosa 89
Retinitis Pigmentosa 90	Retinitis Pigmentosa 92
Retinitis Pigmentosa 93	Retinitis Pigmentosa 95
Nonsyndromic Retinitis Pigmentosa

Diseases related to Retinitis Pigmentosa 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)

#	Related Disease	Score	Top Affiliating Genes
1	leber congenital amaurosis 15	11.0
2	mitochondrial dna-associated leigh syndrome	10.1	MT-TV MT-TK
3	intellectual developmental disorder, autosomal dominant 30, with speech delay and behavioral abnormalities	10.1	MT-TV MT-TK
4	leber congenital amaurosis 4	10.1	TULP1 PDE6A
5	retinitis pigmentosa 26	10.1	TULP1 PDE6A
6	retinitis pigmentosa	10.0
7	keratomalacia	10.0
8	retinitis	10.0
9	late-onset retinal degeneration	10.0	TULP1 PDE6A
10	fundus albipunctatus	9.9	TULP1 RDH5 PDE6A
11	stargardt disease	9.9	TULP1 RDH5 PDE6A
12	retinitis pigmentosa 20	9.9	RPS2 MT-TV MT-TK
13	retinitis pigmentosa 36	9.9	RPS2 MT-TV MT-TK
14	cone dystrophy	9.9	TULP1 RDH5 PDE6A
15	macrocytic anemia	9.8	RPS29 RPS14
16	vitelliform macular dystrophy	9.7	RDH5 PDE6A
17	refractive error	9.6	RDH5 GRM6
18	night blindness	9.5	TULP1 RDH5 PDE6A GRM6
19	congenital stationary night blindness	9.5	TULP1 RDH5 PDE6A GRM6
20	diamond-blackfan anemia	9.5	RPS5 RPS29 RPS2 RPS14
21	leber plus disease	9.4	TULP1 RDH5 PDE6A GRM6
22	eye disease	9.4	TULP1 RDH5 PDE6A GRM6
23	fundus dystrophy	9.4	TULP1 RDH5 PDE6A GRM6
24	cone-rod dystrophy 2	9.4	TULP1 RDH5 PDE6A GRM6

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 14:

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Symptoms & Phenotypes for Retinitis Pigmentosa 14

Human phenotypes related to Retinitis Pigmentosa 14:

³⁰ (show all 10)

#	Description	HPO Frequency	HPO Source Accession
1	nystagmus ³⁰	Very rare (1%)	HP:0000639
2	reduced visual acuity ³⁰	Very rare (1%)	HP:0007663
3	nyctalopia ³⁰	Very rare (1%)	HP:0000662
4	rod-cone dystrophy ³⁰	Very rare (1%)	HP:0000510
5	posterior subcapsular cataract ³⁰	Very rare (1%)	HP:0007787
6	undetectable electroretinogram ³⁰	Very rare (1%)	HP:0000550
7	optic disc pallor ³⁰		HP:0000543
8	constriction of peripheral visual field ³⁰		HP:0001133
9	bone spicule pigmentation of the retina ³⁰		HP:0007737
10	retinal arteriolar constriction ³⁰		HP:0008043

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
nystagmus
nyctalopia
optic disc pallor
retinitis pigmentosa
low visual acuity
more

Clinical features from OMIM®:

600132 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

²⁵

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased viability	GR00106-A-0	10.09	RPS14
2	Decreased viability	GR00240-S-1	10.09	RDH5 RPS14 RPS2 RPS5
3	Decreased viability	GR00249-S	10.09	RPS14 RPS2 RPS5
4	Decreased viability	GR00381-A-1	10.09	RDH5 RPS14
5	Decreased viability	GR00386-A-1	10.09	RDH5 RPS14 RPS2 RPS5
6	Decreased viability	GR00402-S-2	10.09	RPS14 RPS2 RPS5
7	Nuclear 40S maturation defects	GR00209-A-2	8.96	RPS14 RPS5
8	Decreased cell number	GR00303-A	8.8	RPS2 RPS29 RPS5

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Drugs & Therapeutics for Retinitis Pigmentosa 14

Search Clinical Trials, NIH Clinical Center for Retinitis Pigmentosa 14

Cochrane evidence based reviews: retinitis pigmentosa 14

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Genetic Tests for Retinitis Pigmentosa 14

Genetic tests related to Retinitis Pigmentosa 14:

#	Genetic test	Affiliating Genes
1	Retinitis Pigmentosa 14 ²⁸	TULP1

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Anatomical Context for Retinitis Pigmentosa 14

Organs/tissues related to Retinitis Pigmentosa 14:

MalaCards : Retina, Eye, Bone, Monocytes, Brain

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Publications for Retinitis Pigmentosa 14

Articles related to Retinitis Pigmentosa 14:

(show all 28)

#	Title	Authors	PMID	Year
1	TULP1 mutation in two extended Dominican kindreds with autosomal recessive retinitis pigmentosa. ⁶² ⁵⁷ ⁵	Banerjee P...Gilliam TC	9462751	1998
2	Novel compound heterozygous TULP1 mutations in a family with severe early-onset retinitis pigmentosa. ⁵⁷ ⁵	den Hollander AI...Hoyng CB	17620573	2007
3	A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers. ⁵⁷ ⁵	Kondo H...Hayashi K	15557452	2004
4	Tubby-like protein 1 homozygous splice-site mutation causes early-onset severe retinal degeneration. ⁵⁷ ⁵	Lewis CA...Jacobson SG	10440267	1999
5	Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa. ⁵⁷ ⁵	Hagstrom SA...Dryja TP	9462750	1998
6	The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa. ⁵	Comander J...Pierce EA	28981474	2017
7	Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing. ⁵	Oishi M...Yoshimura N	25324289	2014
8	Mutations in TULP1, NR2E3, and MFRP genes in Indian families with autosomal recessive retinitis pigmentosa. ⁵⁷	Kannabiran C...Mohan G	22605927	2012
9	Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. ⁵	Hebrard M...Hamel CP	21792230	2011
10	Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. ⁵	den Hollander AI...Koenekoop RK	18055821	2007
11	Tubby-like protein-1 mutations in autosomal recessive retinitis pigmentosa. ⁵	Gu S...Wright A	9660588	1998
12	Identification of a locus, distinct from RDS-peripherin, for autosomal recessive retinitis pigmentosa on chromosome 6p. ⁵⁷	Knowles JA...Ott J	7987322	1994
13	Causes of Visual Impairment Among the Registered Visually Disabled: A Retrospective Study. ⁶²	Al-Yousuf N...Husain KA	34540512	2021
14	Anterior chamber characteristics assessed by rotating Scheimpflug imaging in patients with retinitis pigmentosa. ⁶²	Kucuk B...Ozsaygili C	31531546	2019
15	Drosophila melanogaster: A Valuable Genetic Model Organism to Elucidate the Biology of Retinitis Pigmentosa. ⁶²	Lehmann M...Hebbar S	30324448	2019
16	HIV-1 Nef CAWLEAQ motif: a regulator of monocytes invasion through ENO1 modulation. ⁶²	Saxena R...Tripathi RK	29404888	2018
17	The Disease Protein Tulp1 Is Essential for Periactive Zone Endocytosis in Photoreceptor Ribbon Synapses. ⁶²	Wahl S...Schmitz F	26911694	2016
18	Proteomic profiling of SupT1 cells reveal modulation of host proteins by HIV-1 Nef variants. ⁶²	Saxena R...Tripathi RK	25874870	2015
19	Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications. ⁶²	Garon ML...Lachapelle P	24894580	2014
20	Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. ⁶²	Banerjee P...Knowles JA	9521870	1998
21	Molecular characterization of TUB, TULP1, and TULP2, members of the novel tubby gene family and their possible relation to ocular diseases. ⁶²	North MA...Nishina PM	9096357	1997
22	Scalp, earlobe and nasopharyngeal recordings of the median nerve somatosensory evoked P14 potential in coma and brain death. Detailed latency and amplitude analysis in 181 patients. ⁶²	Wagner W	8931576	1996
23	Cloning and characterisation of the gene encoding the ribosomal protein S5 (also known as rp14, S2, YS8) of Saccharomyces cerevisiae. ⁶²	Ignatovich O...Beggs JD	8524651	1995
24	Modulation of an inhibitory interneuron in the neural circuitry for the tail withdrawal reflex of Aplysia. ⁶²	Xu Y...Byrne JH	7608775	1995
25	Electroretinographic diagnosis in families with X-linked retinitis pigmentosa. ⁶²	Andreasson SO...Ehinger B	2356700	1990
26	Characteristics of adherence to plastic tissue culture plates of coagulase-negative staphylococci exposed to subinhibitory concentrations of antimicrobial agents. ⁶²	Schadow KH...Christensen GD	3335807	1988
27	A monoclonal antibody reactive with Marek's disease tumor-associated surface antigen. ⁶²	Lee LF...Bacon LD	6294177	1983
28	[Studies on the retinitis pigmentosa. 14. Degeneration and vitamin A]. ⁶²	Miyata M	5892308	1964

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Genes for Retinitis Pigmentosa 14

Genes related to Retinitis Pigmentosa 14 (1 elite genes):

(show all 11)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TULP1	TUB Like Protein 1	Protein Coding	1339.7	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ DISEASES inferred ¹⁴ GeneCards inferred via : Disorders (show sections)	9462750 9462751 10440267 (more) 15557452 17620573 18055821 9660588 21792230 28981474
2	TULP2	TUB Like Protein 2	Protein Coding	6.15	DISEASES inferred ¹⁴
3	RPS5	Ribosomal Protein S5	Protein Coding	5.78	DISEASES inferred ¹⁴
4	MT-TV	Mitochondrially Encoded TRNA-Val (GUN)	RNA Gene	5.59	DISEASES inferred ¹⁴
5	MT-TK	Mitochondrially Encoded TRNA-Lys (AAA/G)	RNA Gene	5.44	DISEASES inferred ¹⁴
6	PDE6A	Phosphodiesterase 6A	Protein Coding	5.28	DISEASES inferred ¹⁴
7	RDH5	Retinol Dehydrogenase 5	Protein Coding	5.11	DISEASES inferred ¹⁴
8	RPS29	Ribosomal Protein S29	Protein Coding	5.08	DISEASES inferred ¹⁴
9	RPS14	Ribosomal Protein S14	Protein Coding	4.98	DISEASES inferred ¹⁴
10	GRM6	Glutamate Metabotropic Receptor 6	Protein Coding	4.94	DISEASES inferred ¹⁴
11	RPS2	Ribosomal Protein S2	Protein Coding	4.94	DISEASES inferred ¹⁴

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Variations for Retinitis Pigmentosa 14

ClinVar genetic disease variations for Retinitis Pigmentosa 14:

⁵ (show all 31)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	TULP1	NM_003322.6(TULP1):c.1259G>C (p.Arg420Pro)	SNV	Pathogenic	7357	rs121909073	GRCh37: 6:35471400-35471400 GRCh38: 6:35503623-35503623
2	TULP1	NM_003322.6(TULP1):c.1376T>A (p.Ile459Lys)	SNV	Pathogenic	7359	rs121909075	GRCh37: 6:35467877-35467877 GRCh38: 6:35500100-35500100
3	TULP1	NM_003322.6(TULP1):c.1145T>C (p.Phe382Ser)	SNV	Pathogenic	7362	rs121909076	GRCh37: 6:35471593-35471593 GRCh38: 6:35503816-35503816
4	TULP1	NM_003322.6(TULP1):c.1511_1521del (p.Leu504fs)	DEL	Pathogenic	7364	rs1581734819	GRCh37: 6:35466212-35466222 GRCh38: 6:35498435-35498445
5	TULP1	NM_003322.6(TULP1):c.718+2T>C	SNV	Pathogenic	7365	rs1581742970	GRCh37: 6:35477409-35477409 GRCh38: 6:35509632-35509632
6	TULP1	NM_003322.6(TULP1):c.187G>T (p.Gly63Ter)	SNV	Pathogenic	1065768		GRCh37: 6:35479960-35479960 GRCh38: 6:35512183-35512183
7	TULP1	NM_003322.6(TULP1):c.1444C>T (p.Arg482Trp)	SNV	Pathogenic	7363	rs121909077	GRCh37: 6:35467809-35467809 GRCh38: 6:35500032-35500032
8	TULP1	NM_003322.6(TULP1):c.1445G>A (p.Arg482Gln)	SNV	Pathogenic	977980	rs146311742	GRCh37: 6:35467808-35467808 GRCh38: 6:35500031-35500031
9	TULP1	NM_003322.6(TULP1):c.1471T>C (p.Phe491Leu)	SNV	Pathogenic	7358	rs121909074	GRCh37: 6:35467782-35467782 GRCh38: 6:35500005-35500005
10	TULP1	NM_003322.6(TULP1):c.1495+1G>A	SNV	Pathogenic	99665	rs281865168	GRCh37: 6:35467757-35467757 GRCh38: 6:35499980-35499980
11	TULP1	NM_003322.6(TULP1):c.1066C>A (p.Pro356Thr)	SNV	Pathogenic	1184552		GRCh37: 6:35473564-35473564 GRCh38: 6:35505787-35505787
12	TULP1	NC_000006.11:g.35474055_35474058del	DEL	Pathogenic	1184553		GRCh37: 6:35474053-35474056 GRCh38: 6:35506276-35506279
13	TULP1	NM_003322.6(TULP1):c.901C>T (p.Gln301Ter)	SNV	Pathogenic	828151	rs201070350	GRCh37: 6:35473878-35473878 GRCh38: 6:35506101-35506101
14	TULP1	NM_003322.6(TULP1):c.1496-6C>A	SNV	Likely Pathogenic	99666	rs281865171	GRCh37: 6:35466243-35466243 GRCh38: 6:35498466-35498466
15	TULP1	NM_003322.6(TULP1):c.1466A>G (p.Lys489Arg)	SNV	Likely Pathogenic	99663	rs62636511	GRCh37: 6:35467787-35467787 GRCh38: 6:35500010-35500010
16	TULP1	NM_003322.6(TULP1):c.162dup (p.Thr55fs)	DUP	Likely Pathogenic	1708378		GRCh37: 6:35479984-35479985 GRCh38: 6:35512207-35512208
17	TULP1	NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)	SNV	Likely Pathogenic	802210	rs373519519	GRCh37: 6:35473848-35473848 GRCh38: 6:35506071-35506071
18	TULP1	NM_003322.6(TULP1):c.821del (p.Lys274fs)	DEL	Likely Pathogenic	865921	rs774204108	GRCh37: 6:35476987-35476987 GRCh38: 6:35509210-35509210
19	TULP1	NM_003322.6(TULP1):c.99+1G>A	SNV	Likely Pathogenic	99675	rs281865166	GRCh37: 6:35480415-35480415 GRCh38: 6:35512638-35512638
20	TULP1	NM_003322.6(TULP1):c.1553_1556dup (p.Tyr520fs)	DUP	Likely Pathogenic	1065757		GRCh37: 6:35466176-35466177 GRCh38: 6:35498399-35498400
21	TULP1	NM_003322.6(TULP1):c.932G>A (p.Arg311Gln)	SNV	Likely Pathogenic	1065758		GRCh37: 6:35473847-35473847 GRCh38: 6:35506070-35506070
22	TULP1	NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)	SNV	Conflicting Interpretations Of Pathogenicity	143126	rs527236117	GRCh37: 6:35479425-35479425 GRCh38: 6:35511648-35511648
23	TULP1	NM_003322.6(TULP1):c.1087G>A (p.Gly363Arg)	SNV	Uncertain Significance	1042725	rs1761067394	GRCh37: 6:35473543-35473543 GRCh38: 6:35505766-35505766
24	PRPF8	NM_006445.4(PRPF8):c.5619+2T>C	SNV	Uncertain Significance	932172	rs1911406583	GRCh37: 17:1559940-1559940 GRCh38: 17:1656646-1656646
25	TULP1	NM_003322.6(TULP1):c.1016G>A (p.Gly339Asp)	SNV	Uncertain Significance	1065674		GRCh37: 6:35473614-35473614 GRCh38: 6:35505837-35505837
26	TULP1	NM_003322.6(TULP1):c.1612A>C (p.Lys538Gln)	SNV	Uncertain Significance	1339036		GRCh37: 6:35466121-35466121 GRCh38: 6:35498344-35498344
27	TULP1	NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)	SNV	Benign	94127	rs2064318	GRCh37: 6:35477025-35477025 GRCh38: 6:35509248-35509248
28	TULP1	NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)	SNV	Benign	99671	rs2064317	GRCh37: 6:35477032-35477032 GRCh38: 6:35509255-35509255
29	TULP1	NM_003322.6(TULP1):c.200C>G (p.Thr67Arg)	SNV	Benign	286865	rs7764472	GRCh37: 6:35479574-35479574 GRCh38: 6:35511797-35511797
30	TULP1	NM_003322.6(TULP1):c.823-17G>C	SNV	Benign	1170073		GRCh37: 6:35474073-35474073 GRCh38: 6:35506296-35506296
31	TULP1	NM_003322.6(TULP1):c.499+26C>T	SNV	Benign	1290548		GRCh37: 6:35478612-35478612 GRCh38: 6:35510835-35510835

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 14:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	TULP1	p.Arg420Pro	VAR_007941	rs121909073
2	TULP1	p.Ile459Lys	VAR_007942	rs121909075
3	TULP1	p.Phe491Leu	VAR_007943	rs121909074
4	TULP1	p.Ala245Val	VAR_008275	rs62636707
5	TULP1	p.Lys261Thr	VAR_008277
6	TULP1	p.Arg378His	VAR_008278	rs148749577
7	TULP1	p.Thr454Met	VAR_008279	rs138200747
8	TULP1	p.Lys489Arg	VAR_008280	rs62636511
9	TULP1	p.Phe382Ser	VAR_037584	rs121909076
10	TULP1	p.Arg482Trp	VAR_065502	rs121909077

Sources

Expression for Retinitis Pigmentosa 14

Search GEO for disease gene expression data for Retinitis Pigmentosa 14.

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Pathways for Retinitis Pigmentosa 14

Pathways related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Regulation of expression of SLITs and ROBOs ⁶⁶ Show member pathways Metabolism of amino acids and derivatives ⁶⁶ Signaling by ROBO receptors ⁶⁶	12.55	RPS5 RPS29 RPS2 RPS14
2	rRNA processing in the nucleus and cytosol ⁶⁶ Show member pathways Major pathway of rRNA processing in the nucleolus and cytosol ⁶⁶ rRNA modification in the nucleus and cytosol ⁶⁶ rRNA processing ⁶⁶	12.43	RPS5 RPS29 RPS2 RPS14
3	Influenza Infection ⁶⁶ Show member pathways Influenza Viral RNA Transcription and Replication ⁶⁶ Influenza Virus Induced Apoptosis ⁶⁶ vRNP Assembly ⁶⁶	12.03	RPS5 RPS29 RPS2 RPS14
4	SARS-CoV-1-host interactions ⁶⁶ Show member pathways SARS-CoV-1 activates/modulates innate immune responses ⁶⁶ SARS-CoV-1 Infection ⁶⁶ SARS-CoV-1 targets host intracellular signalling and regulatory pathways ⁶⁶	11.92	RPS5 RPS29 RPS2 RPS14
5	Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S ⁶⁶ Show member pathways Formation of the ternary complex, and subsequently, the 43S complex ⁶⁶ Ribosomal scanning and start codon recognition ⁶⁶ Translation initiation complex formation ⁶⁶	11.62	RPS5 RPS29 RPS2 RPS14
6	SARS-CoV-2 modulates host translation machinery ⁶⁶ Show member pathways SARS-CoV-1 modulates host translation machinery ⁶⁶	10.87	RPS5 RPS29 RPS2 RPS14

Sources

GO Terms for Retinitis Pigmentosa 14

Cellular components related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	focal adhesion	GO:0005925	9.97	RPS5 RPS29 RPS2 RPS14
2	ribosome	GO:0005840	9.72	RPS5 RPS29 RPS2 RPS14
3	ribonucleoprotein complex	GO:1990904	9.65	RPS5 RPS29 RPS2 RPS14
4	cytosolic ribosome	GO:0022626	9.63	RPS5 RPS2 RPS14
5	small ribosomal subunit	GO:0015935	9.26	RPS5 RPS29 RPS2
6	cytosolic small ribosomal subunit	GO:0022627	9.23	RPS5 RPS29 RPS2 RPS14

Biological processes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	translation	GO:0006412	9.86	RPS14 RPS2 RPS29 RPS5
2	response to stimulus	GO:0050896	9.77	TULP1 RDH5 PDE6A GRM6
3	protein localization to cilium	GO:0061512	9.73	TULP2 TULP1
4	detection of light stimulus involved in visual perception	GO:0050908	9.71	TULP1 GRM6
5	retina development in camera-type eye	GO:0060041	9.63	TULP1 PDE6A GRM6
6	ribosomal small subunit assembly	GO:0000028	9.62	RPS5 RPS14
7	cytoplasmic translation	GO:0002181	9.56	RPS5 RPS29 RPS2 RPS14
8	visual perception	GO:0007601	9.28	TULP2 TULP1 RDH5 PDE6A GRM6

Molecular functions related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	structural constituent of ribosome	GO:0003735	9.23	RPS5 RPS29 RPS2 RPS14

Sources

Sources for Retinitis Pigmentosa 14

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

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RP14 MCID: RTN044 MIFTS: 43	Retinitis Pigmentosa 14 (RP14) Categories: Bone diseases, Ear diseases, Eye diseases, Genetic diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Retinitis Pigmentosa 14 (RP14)

Aliases & Classifications for Retinitis Pigmentosa 14

MalaCards integrated aliases for Retinitis Pigmentosa 14:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Retinitis Pigmentosa 14

Related Diseases for Retinitis Pigmentosa 14

Diseases in the Retinitis Pigmentosa family:

Diseases related to Retinitis Pigmentosa 14 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Retinitis Pigmentosa 14:

Symptoms & Phenotypes for Retinitis Pigmentosa 14

Human phenotypes related to Retinitis Pigmentosa 14:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

GenomeRNAi Phenotypes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

Drugs & Therapeutics for Retinitis Pigmentosa 14

Cochrane evidence based reviews: retinitis pigmentosa 14

Genetic Tests for Retinitis Pigmentosa 14

Genetic tests related to Retinitis Pigmentosa 14:

Anatomical Context for Retinitis Pigmentosa 14

Organs/tissues related to Retinitis Pigmentosa 14:

Publications for Retinitis Pigmentosa 14

Articles related to Retinitis Pigmentosa 14:

Genes for Retinitis Pigmentosa 14

Genes related to Retinitis Pigmentosa 14 (1 elite genes):

Variations for Retinitis Pigmentosa 14

ClinVar genetic disease variations for Retinitis Pigmentosa 14:

UniProtKB/Swiss-Prot genetic disease variations for Retinitis Pigmentosa 14:

Expression for Retinitis Pigmentosa 14

Pathways for Retinitis Pigmentosa 14

Pathways related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

GO Terms for Retinitis Pigmentosa 14

Cellular components related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

Biological processes related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

Molecular functions related to Retinitis Pigmentosa 14 according to GeneCards Suite gene sharing:

Sources for Retinitis Pigmentosa 14