Pathologic Nystagmus disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MalaCards based summary: Pathologic Nystagmus, also known as nystagmus, is related to nystagmus 7, congenital, autosomal dominant and nystagmus 3, congenital, autosomal dominant, and has symptoms including ophthalmoplegia, neurologic symptoms and deficiencies of smooth pursuit movements. An important gene associated with Pathologic Nystagmus is FRMD7 (FERM Domain Containing 7), and among its related pathways/superpathways are Visual Cycle in Retinal Rods and Visual signal transduction: Cones. The drugs Memantine and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include eye, brain and medulla oblongata, and related phenotypes are vision/eye and pigmentation

Wikipedia: ⁷⁵ Nystagmus is a condition of involuntary (or voluntary, in some cases) eye movement. Infants can be born... more...

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Related Diseases for Pathologic Nystagmus

Diseases related to Pathologic Nystagmus via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 1007)

#	Related Disease	Score	Top Affiliating Genes
1	nystagmus 7, congenital, autosomal dominant	32.7	GPR143 FRMD7
2	nystagmus 3, congenital, autosomal dominant	32.6	PAX6 GPR143 FRMD7 FARP1
3	nystagmus 6, congenital, x-linked	32.3	SLC38A8 OPN1LW GPR143 FRMD7
4	aland island eye disease	31.7	LRMDA GPR143 CACNA1F
5	aniridia 1	31.7	SLC38A8 PAX6 GPR143 FRMD7 CRYAA
6	albinism, oculocutaneous, type ib	31.6	OCA2 LRMDA GPR143
7	ocular motility disease	31.6	SLC38A8 PAX6 GPR143 FRMD7 CRYAA
8	albinism	31.5	OCA2 LRMDA HPS3 GPR143
9	retinal cone dystrophy 3b	31.4	PDE6C CNGB3
10	night blindness, congenital stationary, type 2a	31.4	CRYAA CACNA1F
11	strabismus	31.3	PAX6 GPR143 FRMD7 CRYAA
12	night blindness, congenital stationary, type 1c	31.3	SLC38A8 CACNA1F
13	retinoschisis 1, x-linked, juvenile	31.2	GNAT2 CNGB3 CNGA3 CACNA1F
14	esotropia	31.2	PAX6 FRMD7 CRYAA
15	hermansky-pudlak syndrome 6	31.1	HPS6 HPS5
16	achromatopsia 4	31.1	PDE6C GNAT2 CNGB3 CNGA3
17	achromatopsia 3	31.1	PDE6C GNAT2 CNGB3 CNGA3 CACNA1F
18	achromatopsia 2	31.1	PDE6C GNAT2 CNGB3 CNGA3
19	achromatopsia 7	31.1	PDE6C GNAT2 CNGB3 CNGA3
20	hermansky-pudlak syndrome 3	31.1	HPS6 HPS5 HPS3
21	albinism, oculocutaneous, type ii	30.9	SLC38A8 OCA2 LRMDA HPS6 HPS5 HPS3
22	amblyopia	30.9	PAX6 FRMD7 CRYAA CACNA1F
23	progressive cone dystrophy	30.8	PDE6C GNAT2 CNGB3 CNGA3 CACNA1F
24	oculocutaneous albinism	30.8	OCA2 LRMDA HPS6 HPS5 HPS3 BLOC1S3
25	chediak-higashi syndrome	30.8	HPS6 HPS5 HPS3 BLOC1S3
26	blue cone monochromacy	30.7	PDE6C OPN1LW GNAT2 CNGB3 CNGA3 CACNA1F
27	astigmatism	30.6	GPR143 FRMD7 CRYAA CACNA1F
28	exotropia	30.6	PAX6 HPS6 HPS3 GPR143 FRMD7 CRYAA
29	albinism, oculocutaneous, type iv	30.5	OCA2 LRMDA HPS6 HPS5 HPS3 GPR143
30	albinism, oculocutaneous, type iii	30.4	OCA2 LRMDA HPS6 HPS5 HPS3 GPR143
31	refractive error	30.4	PAX6 OPN1LW CRYAA CACNA1F
32	congenital stationary night blindness	30.2	PDE6C OPN1LW GNAT2 FRMD7 CRYAA CNGB3
33	ocular albinism	30.2	SLC38A8 OCA2 LRMDA HPS6 HPS5 HPS3
34	myopia	30.2	PAX6 OPN1LW CRYAA CNGB3 CACNA1F
35	exudative vitreoretinopathy 1	30.1	SLC38A8 PAX6 CRYAA
36	cycloplegia	30.1	PDE6C GNAT2 CNGB3 CNGA3
37	hermansky-pudlak syndrome	30.0	SLC38A8 OCA2 LRMDA HPS6 HPS5 HPS3
38	anisometropia	30.0	PAX6 CRYAA
39	alternating exotropia	30.0	CNGB3 CNGA3
40	peripheral retinal degeneration	30.0	CNGB3 CNGA3
41	macular degeneration, age-related, 1	29.9	PAX6 GNAT2 CRYAA CNGB3 CNGA3
42	scotoma	29.9	PDE6C GNAT2 CNGB3 CNGA3
43	leber plus disease	29.9	SLC38A8 PDE6C PAX6 OPN1LW GPR143 GNAT2
44	achromatopsia	29.9	SLC38A8 PDE6C PAX6 OPN1LW GPR143 GNAT2
45	color blindness	29.9	SLC38A8 PDE6C OPN1LW GNAT2 FRMD7 CRYAA
46	anterior segment dysgenesis	29.8	SLC38A8 PAX6 GPR143 FRMD7 CRYAA
47	leukocoria	29.8	PAX6 CRYAA
48	cone-rod dystrophy 2	29.6	SLC38A8 PDE6C PAX6 OPN1LW GPR143 GNAT2
49	gyrate atrophy of choroid and retina	29.3	PDE6C CRYAA CNGB3 CNGA3
50	eye disease	29.3	PDE6C PAX6 GPR143 GNAT2 CRYAA CNGB3

Comorbidity relations with Pathologic Nystagmus via Phenotypic Disease Network (PDN):

Hypertension, Essential

Labyrinthitis

Graphical network of the top 20 diseases related to Pathologic Nystagmus:

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Symptoms & Phenotypes for Pathologic Nystagmus

UMLS symptoms related to Pathologic Nystagmus:

ophthalmoplegia; neurologic symptoms; deficiencies of smooth pursuit movements

MGI Mouse Phenotypes related to Pathologic Nystagmus:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	vision/eye	MP:0005391	9.55	BLOC1S3 CACNA1F CASK CNGA3 CNGB3 CRYAA
2	pigmentation	MP:0001186	9.5	BLOC1S3 GPR143 HPS3 HPS5 HPS6 OCA2

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Drugs & Therapeutics for Pathologic Nystagmus

Drugs for Pathologic Nystagmus (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 18)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Memantine

Approved, Investigational

Phase 4

41100-52-1, 19982-08-2

4054

2

Dopamine

Approved

Phase 4

62-31-7, 51-61-6

681

3

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

4

Brinzolamide

Approved

Phase 4

138890-62-7

68844

5

Neurotransmitter Agents

Phase 4

6

Dopamine Agents

Phase 4

7

Anti-Anxiety Agents

Phase 4

8

Antiparkinson Agents

Phase 4

9

Excitatory Amino Acid Antagonists

Phase 4

10

Psychotropic Drugs

Phase 4

11

Anticonvulsants

Phase 4

12

Analgesics

Phase 4

13

Carbonic Anhydrase Inhibitors

Phase 4

14

Ophthalmic Solutions

Phase 4

15

Pharmaceutical Solutions

Phase 4

16

Methadone

Approved

76-99-3, 1095-90-5

4095

17

Kava

Approved, Investigational, Nutraceutical

9000-38-8

18

Analgesics, Opioid

Interventional clinical trials:

(show all 21)

#	Name	Status	NCT ID	Phase	Drugs
1	Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Oculopalatal Tremor: a Controled Open-label Study	Completed	NCT02466191	Phase 4	Memantine;Gabapentin
2	Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome	Completed	NCT01312402	Phase 4	topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
3	Efficacy and Safety of Neramexane Mesylate in Congenital Idiopathic Nystagmus and Acquired Nystagmus: a Randomized, Double-blind, Placebo-controlled, Single Center, Proof of Concept Study Using a Two-period Cross-over Design	Completed	NCT00661440	Phase 2	Neramexane mesylate
4	Horizontal Rectus Tenotomy in the Treatment of Congenital Nystagmus	Completed	NCT00001866	Phase 2
5	Treatment of Pendular Nystagmus With Gabapentin and Memantine in Patients With Multiple Sclerosis	Completed	NCT01744444	Phase 2	Memantine;Gabapentin
6	Long-term Open-label Extension Study to Assess the Safety, Tolerability, and Efficacy of Neramexane Mesylate in Congenital Idiopathic Nystagmus and Acquired Nystagmus	Terminated	NCT00799942	Phase 2	Neramexane mesylate
7	Phase 2 Study of 4-Aminopyridine for the Treatment of Episodic Ataxia Type 2	Withdrawn	NCT01543750	Phase 2	4-Aminopyridine;Placebo
8	Vision in Children Born to Opioid-dependent Methadone-maintained Mothers	Unknown status	NCT03603301
9	Diagnostic Accuracy of the Vibration Induced Nystagmus Test in Room Light.	Completed	NCT02626052
10	Clinical Application of Objective Visual Acuity Measurement Using Suppression Method to Inhibit Optokinetic Nystagmus (OKN).	Completed	NCT04642495
11	Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Nystagmus or Strabismus	Completed	NCT00001861
12	Investigation and Treatment of Ocular Motor Disorders: Cross-over Comparison of Gabapentin and Memantine as Treatment for Nystagmus	Completed	NCT00928954		gabapentin;memantine
13	The Effect of Vestibular Rehabilitation on Sensory Profile and Postrotary Nystagmus in Autistic Children	Completed	NCT03957044
14	Effects of Vestibular Rehabilitation in the Treatment of Patients With Acute Vestibular Loss. - A Randomized Controlled Trial	Completed	NCT00702832
15	Evaluation of Patients With Benign Paroxysmal Positional Vertigo With vHIT (Video Head Impulse Test) and VNG (Videonystagmography)	Completed	NCT05141734
16	Production of a Device to Obtain Continuous Ambulatory Vestibular Assessment (CAVA) - Healthy Volunteer Trial	Completed	NCT03661762
17	Coordination of Rare Diseases at Sanford	Recruiting	NCT01793168
18	Prevalence of Positional Nystagmus in a Population of Healthy Adults	Recruiting	NCT05554770
19	Biofeedback in Idiopathic Infantile Nystagmus Syndrome	Recruiting	NCT04142307
20	Randomized Controlled Trial on Nystagmus Assessment for Patients Consulting for Acute Vertigo in the Emergency Department With/Without Frenzel Lens With/Without Form: A Pilot Study	Recruiting	NCT05176015
21	Normative Data for Post-rotatory Nystagmus Test at Spanish Adolescent and Adult Population: a Transversal Study	Not yet recruiting	NCT04788134

Search NIH Clinical Center for Pathologic Nystagmus

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Genetic Tests for Pathologic Nystagmus

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Anatomical Context for Pathologic Nystagmus

Organs/tissues related to Pathologic Nystagmus:

MalaCards : Eye, Brain, Medulla Oblongata, Cerebellum, Cortex, Spinal Cord, Pineal

Sources

Publications for Pathologic Nystagmus

Articles related to Pathologic Nystagmus:

(show top 50) (show all 14274)

#	Title	Authors	PMID	Year
1	Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia. ⁶²	Malechka VV...Hufnagel RB	36339947	2023
2	Prenatal diagnosis of Bardet Biedl Syndrome: A case report. ⁶²	Arora E...Chervenak J	36406960	2023
3	Direction-changing spontaneous nystagmus in patients with dizziness. ⁶²	Lee J...Kim CH	36454383	2022
4	Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39. ⁶²	Viertauer S...Eggers C	35947152	2022
5	TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions. ⁶²	Hijazi H...Lupski JR	36368327	2022
6	Clinical characteristics of congenital and developmental cataract in Kazakhstan. ⁶²	Kabylbekova A...Auyezova A	36453339	2022
7	Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. ⁶²	Marziali E...Bacci GM	36469668	2022
8	Ocular findings and genetic test in Alström syndrome in childhood. ⁶²	Wang Y...Ding X	36206858	2022
9	Efficacy and Safety of Ketamine vs Electroconvulsive Therapy Among Patients With Major Depressive Episode: A Systematic Review and Meta-analysis. ⁶²	Rhee TG...Wilkinson ST	36260324	2022
10	Tracking Eye Movements for Diagnosis in Myasthenia Gravis: A Comprehensive Review. ⁶²	Nguyen MNL...White OB	35921559	2022
11	Cerebral visual impairment in children: Multicentric study determining the causes, associated neurological and ocular findings, and risk factors for severe vision impairment. ⁶²	Mohapatra M...Ganesh S	36453355	2022
12	Novel mutation of IFT140 in an infant with Mainzer-Saldino syndrome presenting with retinal dystrophy. ⁶²	Yeh TC...Yang CF	36393898	2022
13	Scale for Ocular motor Disorders in Ataxia (SODA). ⁶²	Shaikh AG...Manto M	36403298	2022
14	Novel phenotype and genotype spectrum of WDR62 in two patients with associated primary autosomal recessive microcephaly. ⁶²	Aryan H...Tavasoli AR	35031939	2022
15	MOG antibody associated disease (MOGAD) presenting with extensive brain stem encephalitis: A case report. ⁶²	Olbert E...Struhal W	36388768	2022
16	Acute vertical pendular nystagmus: eye-movement analysis and review of the literature. ⁶²	Oh EH...Choi JH	35904591	2022
17	Objective measurement of HINTS (Head Impulse, Nystagmus, Test of Skew) in peripheral vestibulopathy. ⁶²	Lee DH...Koo JW	35339313	2022
18	Infantile nystagmus without overt eye abnormality: Early features and neuro-ophthalmological diagnosis. ⁶²	Suppiej A...Reffo ME	35644009	2022
19	Gestational malnutrition, hyperemesis gravidarum, and Wernicke's encephalopathy: What is missing? ⁶²	Erick M	36250744	2022
20	Downbeat nystagmus in metronidazole neurotoxicity. ⁶²	Fearon C...Tyndel F	36451594	2022
21	The human brain networks mediating the vestibular sensation of self-motion. ⁶²	Hadi Z...Seemungal BM	36332321	2022
22	Diagnostic accuracy of the physical exam in emergency department patients with acute vertigo or dizziness: Systematic review and meta-analysis for GRACE-3. ⁶²	Shah VP...Murad MH	36453134	2022
23	Vestibular paroxysmia: clinical characteristics and long-term course. ⁶²	Steinmetz K...Huppert D	35595969	2022
24	Vestibular function in children with generalized epilepsy and treated with valproate. ⁶²	Hamed SA...Osiely AM	36171021	2022
25	[High-dose medialis recession in latent nystagmus]. ⁶²	Graf M...Hausmann A	36471014	2022
26	Downbeat nystagmus becomes attenuated during walking compared to standing. ⁶²	Dietrich H...Wuehr M	35412151	2022
27	Smartphone-based nystagmus diagnostics: development of an innovative app for the targeted detection of vertigo. ⁶²	van Bonn SM...Schuldt T	35451613	2022
28	Timing for nystagmus evaluation by STANDING or HINTS in patients with vertigo/dizziness in the emergency department. ⁶²	Vanni S...Bartolucci M	36448574	2022
29	Modeling the effect of gravity on periodic alternating nystagmus. ⁶²	Shemesh AA...Otero-Millan J	36115220	2022
30	Factors influencing HINTS exam usage by Canadian Emergency Medicine Physicians. ⁶²	Byworth M...Sharma M	36109489	2022
31	Optokinetic set-point adaptation functions as an internal dynamic calibration mechanism for oculomotor disequilibrium. ⁶²	Lin TF...Huang MY	36325052	2022
32	Life-threatening pediatric dextromethorphan polistirex overdose. ⁶²	Seltzer JA...Lasoff DR	35989201	2022
33	Smartphone video nystagmography using convolutional neural networks: ConVNG. ⁶²	Friedrich MU...Zeller D	36422668	2022
34	The clinical application of head-shaking test combined with head-shaking tilt suppression test in distinguishing between peripheral and central vertigo at bedside vs. examination room. ⁶²	Sun H...Wu H	35760753	2022
35	Diagnosing and localizing the acute vestibular syndrome - Beyond the HINTS exam. ⁶²	Fracica E...Gold DR	36270149	2022
36	Patterns of vestibular function in patients with dizziness after COVID-19 vaccination; dual tertiary referral center study. ⁶²	Yoon J...Suh MW	36384386	2022
37	Studying the structure of the nucleus of the trochlear nerve in mice through 7 days of readaptation to earth gravity after spaceflight. ⁶²	Mikheeva I...Pavlik L	36096199	2022
38	Microperimetry assessment in foveal hypoplasia: functional results in a series of pediatric patients. ⁶²	Bacci GM...Caputo R	36423692	2022
39	Ocular contrapulsion followed by ipsipulsion in Wallenberg syndrome: The first case report in literature. ⁶²	Junior EM...Claudino Dos Santos JC	36105828	2022
40	Automated nystagmus detection: Accuracy of slow-phase and quick-phase algorithms to determine the presence of nystagmus. ⁶²	Winnick AA...Yang CC	36058057	2022
41	Efferent neuro-ophthalmic complications of coronavirus disease 2019. ⁶²	Dinkin M...Sathi S	36165417	2022
42	Incidence and clinical features of acute multiple small cerebellar infarction. ⁶²	Yu L...Hu W	36174324	2022
43	Predictive values of neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), and other prognostic factors in pediatric vestibular neuritis patients. ⁶²	Jeong JU...Lee JH	36436319	2022
44	Reading difficulties in amblyopia: Consequence of visual sensory and oculomotor dysfunction. ⁶²	Bhutada I...Ghasia FF	36242809	2022
45	A 43-Day-Old Male With Respiratory Distress and Acute-Onset Hypotonia. ⁶²	Corrado A...Wolf A	36254627	2022
46	[A case of ocular albinism with an abnormal visual evoked potential]. ⁶²	Wang G...Li SY	36348533	2022
47	Clinical Reasoning: A 12-Year-Old Girl With Acute Onset Diplopia, Dizziness and Upbeat Nystagmus. ⁶²	Chenji G...Fotedar N	36347627	2022
48	Eye movement abnormalities in neurodegenerative langerhans cell histiocytosis. ⁶²	Autier L...Idbaih A	35760933	2022
49	Leigh syndrome is the main clinical characteristic of PTCD3 deficiency. ⁶²	Munoz-Pujol G...Tort F	36450274	2022
50	Comparison of vestibular ocular reflex and gross motor development in children with semicircular canal aplasia and hypoplasia. ⁶²	Kimura Y...Kaga K	36137473	2022

Sources

Genes for Pathologic Nystagmus

Genes related to Pathologic Nystagmus (0 elite genes):

(show all 22)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	FRMD7	FERM Domain Containing 7	Protein Coding	9.42	DISEASES inferred ¹⁴
2	GPR143	G Protein-Coupled Receptor 143	Protein Coding	8.29	DISEASES inferred ¹⁴
3	SLC38A8	Solute Carrier Family 38 Member 8	Protein Coding	7.73	DISEASES inferred ¹⁴
4	CRYAA	Crystallin Alpha A	Protein Coding	7.32	DISEASES inferred ¹⁴ ¹⁴
5	PAX6	Paired Box 6	Protein Coding	6.76	DISEASES inferred ¹⁴
6	CNGB3	Cyclic Nucleotide Gated Channel Subunit Beta 3	Protein Coding	6.39	DISEASES inferred ¹⁴
7	FARP1	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 1	Protein Coding	6.34	DISEASES inferred ¹⁴
8	HPS6	HPS6 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 3	Protein Coding	6.33	DISEASES inferred ¹⁴
9	FARP2	FERM, ARH/RhoGEF And Pleckstrin Domain Protein 2	Protein Coding	6.21	DISEASES inferred ¹⁴
10	CNGA3	Cyclic Nucleotide Gated Channel Subunit Alpha 3	Protein Coding	6.13	DISEASES inferred ¹⁴
11	HPS3	HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1	Protein Coding	6.11	DISEASES inferred ¹⁴
12	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	6.04	DISEASES inferred ¹⁴
13	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	6.04	DISEASES inferred ¹⁴
14	LRMDA	Leucine Rich Melanocyte Differentiation Associated	Protein Coding	5.96	DISEASES inferred ¹⁴
15	CACNA1F	Calcium Voltage-Gated Channel Subunit Alpha1 F	Protein Coding	5.96	DISEASES inferred ¹⁴
16	OCA2	OCA2 Melanosomal Transmembrane Protein	Protein Coding	5.94	DISEASES inferred ¹⁴
17	HPS5	HPS5 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 2	Protein Coding	5.89	DISEASES inferred ¹⁴
18	BLOC1S3	Biogenesis Of Lysosomal Organelles Complex 1 Subunit 3	Protein Coding	5.89	DISEASES inferred ¹⁴
19	PDE6C	Phosphodiesterase 6C	Protein Coding	5.89	DISEASES inferred ¹⁴
20	OPN1LW	Opsin 1, Long Wave Sensitive	Protein Coding	5.84	DISEASES inferred ¹⁴
21	TMEM63A	Transmembrane Protein 63A	Protein Coding	5.8	DISEASES inferred ¹⁴
22	RDX	Radixin	Protein Coding	5.8	DISEASES inferred ¹⁴

Sources

Variations for Pathologic Nystagmus

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Expression for Pathologic Nystagmus

Search GEO for disease gene expression data for Pathologic Nystagmus.

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Pathways for Pathologic Nystagmus

Pathways related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Visual Cycle in Retinal Rods ⁶⁴	11.1	GNAT2 CNGB3 CNGA3
2	Visual signal transduction: Cones ⁶¹	10.29	PDE6C GNAT2 CNGB3 CNGA3

Sources

GO Terms for Pathologic Nystagmus

Cellular components related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane transporter complex	GO:1902495	9.56	CNGB3 CNGA3
2	photoreceptor outer segment	GO:0001750	9.56	OPN1LW GNAT2 CNGB3 CACNA1F
3	intracellular cyclic nucleotide activated cation channel complex	GO:0017071	9.46	CNGB3 CNGA3
4	BLOC-2 complex	GO:0031084	9.1	HPS6 HPS5 HPS3

Biological processes related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular transport	GO:0046907	9.95	HPS6 HPS5 HPS3
2	melanosome assembly	GO:1903232	9.88	HPS6 HPS5 HPS3
3	melanocyte differentiation	GO:0030318	9.83	OCA2 LRMDA HPS6
4	retinal cone cell development	GO:0046549	9.8	PDE6C GNAT2
5	response to stimulus	GO:0050896	9.8	CACNA1F CNGA3 CNGB3 CRYAA GNAT2 OPN1LW
6	organelle organization	GO:0006996	9.77	HPS6 HPS5 HPS3
7	platelet dense granule organization	GO:0060155	9.76	HPS6 HPS5 HPS3 BLOC1S3
8	eye pigment biosynthetic process	GO:0006726	9.63	OCA2 GPR143
9	developmental pigmentation	GO:0048066	9.62	OCA2 HPS5 BLOC1S3
10	visual perception	GO:0007601	9.58	PDE6C PAX6 OPN1LW GPR143 GNAT2 CRYAA
11	pigmentation	GO:0043473	9.43	OCA2 HPS6 HPS5 HPS3 BLOC1S3

Molecular functions related to Pathologic Nystagmus according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular cAMP-activated cation channel activity	GO:0005222	9.46	CNGB3 CNGA3
2	intracellular cGMP-activated cation channel activity	GO:0005223	9.26	CNGB3 CNGA3
3	cGMP binding	GO:0030553	9.1	PDE6C CNGB3 CNGA3

Sources

Sources for Pathologic Nystagmus

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: PTH003 MIFTS: 47	Pathologic Nystagmus Categories: Eye diseases, Neuronal diseases	Data Licensing For inquiries, contact: [email protected]
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