CRYGC

Summary

CRYGC (crystallin gamma C, HGNC:2410) is a protein-coding gene on chromosome 2q33.3, encoding Gamma-crystallin C (P07315). Crystallins are the dominant structural components of the vertebrate eye lens.

This gene encodes a member of the beta/gamma-crystallin family of proteins. Crystallins constitute the major proteins of vertebrate eye lens and maintain the transparency and refractive index of the lens. This gene and several family members are present in a gene cluster on chromosome 2. Mutations in this gene have been shown to cause multiple types of cataract, including Coppock-like cataract and zonular pulverulent cataract, among others.

Source: NCBI Gene 1420 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cataract 2, multiple types (Definitive, GenCC) — +4 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 104 total — 14 pathogenic, 6 likely-pathogenic
• Phenotypes (HPO): 15
• Druggable target: yes
• Dosage sensitivity (ClinGen): haploinsufficiency no evidence, triplosensitivity no evidence
• MANE Select transcript: NM_020989

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2410
Approved symbol	CRYGC
Name	crystallin gamma C
Location	2q33.3
Locus type	gene with protein product
Status	Approved
Ensembl gene	ENSG00000163254
Ensembl biotype	protein_coding
OMIM	123680
Entrez	1420

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000282141

RefSeq mRNA: 1 — MANE Select: NM_020989 NM_020989

CCDS: CCDS2379

Canonical transcript exons

ENST00000282141 — 3 exons

Exon	Start	End
ENSE00000796724	208129441	208129683
ENSE00000796725	208128137	208128475
ENSE00001695790	208129784	208129828

Expression profiles

Bgee: expression breadth broad, 15 present calls, max score 81.97.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.9145 / max 1530.9987, expressed in 28 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
33428	0.9031	28
33429	0.0113	2

Top tissues by expression

110 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	81.97	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	72.48	gold quality
testis	UBERON:0000473	53.18	gold quality
left testis	UBERON:0004533	53.11	gold quality
right testis	UBERON:0004534	52.95	gold quality
mucosa of stomach	UBERON:0001199	41.37	silver quality
duodenum	UBERON:0002114	40.37	gold quality
colonic epithelium	UBERON:0000397	37.20	gold quality
ventricular zone	UBERON:0003053	36.48	gold quality
cortical plate	UBERON:0005343	36.47	gold quality
bone marrow cell	CL:0002092	36.16	gold quality
ganglionic eminence	UBERON:0004023	35.49	gold quality
skeletal muscle tissue	UBERON:0001134	33.38	gold quality
hindlimb stylopod muscle	UBERON:0004252	32.15	gold quality
bone marrow	UBERON:0002371	31.74	gold quality
muscle tissue	UBERON:0002385	31.06	gold quality
sural nerve	UBERON:0015488	30.93	gold quality
stromal cell of endometrium	CL:0002255	29.87	gold quality
hypothalamus	UBERON:0001898	29.37	gold quality
liver	UBERON:0002107	28.89	gold quality
islet of Langerhans	UBERON:0000006	28.65	silver quality
lymph node	UBERON:0000029	27.57	gold quality
leukocyte	CL:0000738	27.11	gold quality
monocyte	CL:0000576	27.06	gold quality
tonsil	UBERON:0002372	27.05	gold quality
vermiform appendix	UBERON:0001154	26.42	gold quality
blood	UBERON:0000178	26.28	gold quality
gall bladder	UBERON:0002110	25.98	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	25.89	gold quality
pancreas	UBERON:0001264	25.84	silver quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): HSF1, HSF4, NFKB, RELA, STAT6

Functional genomics

ClinGen dosage: haploinsufficiency 0 (no evidence), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map

Literature-anchored findings (GeneRIF, showing 22)

• The T5P mutation obviously changes conformation and decreases conformational stability. (PMID:11904153)
• calculation of the standard free-energy by equilibrium unfolding transition in guanidine hydrochloride (PMID:12457849)
• In gammaD-crystallin, methylation is exclusively at Cys 110, whereas in gammaC- and gammaB-crystallins, the principal methylation site is Cys 22 with minor methylation at Cys 79 (PMID:12876325)
• the loss of interactions of T5P mutant of the gammaC-crystallin with other crystallins may play a larger role than the protection afforded by chaperone-like activity in Coppock-like cataract. (PMID:15322286)
• This is the first case of phenotypic heterogeneity in the primary congenital cataract specifically associated with the R168W mutation in the CRYGC gene. (PMID:17679936)
• Identification of a novel nonsense mutation in CRYGC in a Chinese family with autosomal dominant congenital nuclear cataracts and microcornea. (PMID:19204787)
• Report a new nonsense mutation (Y56X) in CRYGD and a prev’ly reported missense mutation (R12C) in CRYAA associated with nuclear autosomal dominant congenital cataract in Brazilian families. A new polymorphism (S119S) in CRYGC was observed in one family. (PMID:19390652)
• Two novel nonsynonymous variations and four reported variations in CRYAB, CRYGC, CRYGD, and GJA8, were observed. (PMID:21423869)
• Transgenic expression of mutant CRYGC5bpd gamma-crystallin at near-physiological levels causes lens opacities and fiber cell defects, confirming the pathogenicity of this mutation. (PMID:21436266)
• Molecular modeling and spectroscopic studies indicated that the mutation impaired the tertiary structure of gamma C crystallin by modifying the H-bonding network in the C-terminal domain. (PMID:22052681)
• A nonsense mutation c.471G>A in CRYGC is associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree. (PMID:22876111)
• identified a CRYAA mutation in family A and a CRYGC mutation in family B with congenital cataract (PMID:23441109)
• We confirm that congenital cataract is associated with a CRYGC gene mutation. (PMID:23954869)
• Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. (PMID:24281366)
• the G129C mutation in gammaC-crystallin, which is associated with autosomal dominant congenital nuclear cataract, perturbed the unfolding process by promoting the accumulation of two distinct aggregation-prone intermediates under mild denaturing conditions. (PMID:26165230)
• Study identified eight different mutations in CRYGC associated with autosomal dominant congenital nuclear cataracts (ADCC) in a cohort of Chinese family and shows that CRYGC mutations are responsible for 4.1% of ADCC families in the cohort. The results expand the spectrum of CRYGC mutations as well as their associated phenotypes. (PMID:28298635)
• We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. (PMID:29386872)
• Identification of a novel CRYGC exon 2 mutation in a pedigree affected with congenital cataracts (PMID:31302914)
• A novel CRYGC E128* mutation underlying an autosomal dominant nuclear cataract in a south Indian kindred. (PMID:32811259)
• Cataract-causing mutations L45P and Y46D promote gammaC-crystallin aggregation by disturbing hydrogen bonds network in the second Greek key motif. (PMID:33278449)
• Cataract-causing mutations L45P and Y46D impair the thermal stability of gammaC-crystallin. (PMID:33422942)
• The Y46D Mutation Destabilizes Dense Packing of the Second Greek Key Pair of Human gammaC-Crystallin Causing Congenital Nuclear Cataracts. (PMID:37184593)

Cross-species orthologs

2 orthologs

Organism	Symbol	Gene ID
mus_musculus	Crygc	ENSMUSG00000025952
rattus_norvegicus	Crygc	ENSRNOG00000014950

Paralogs (14): CRYBG3 (ENSG00000080200), CRYBB3 (ENSG00000100053), CRYBB1 (ENSG00000100122), CRYBA1 (ENSG00000108255), CRYBG1 (ENSG00000112297), CRYGD (ENSG00000118231), CRYGN (ENSG00000127377), CRYBA2 (ENSG00000163499), CRYGA (ENSG00000168582), CRYBG2 (ENSG00000176092), CRYGB (ENSG00000182187), CRYBA4 (ENSG00000196431), CRYGS (ENSG00000213139), CRYBB2 (ENSG00000244752)

Protein

Protein identifiers

Gamma-crystallin C — P07315 (reviewed: P07315)

Alternative names: Gamma-C-crystallin, Gamma-crystallin 2-1, Gamma-crystallin 3

All UniProt accessions (2): A0A0X8GLL6, P07315

UniProt curated annotations — full annotation on UniProt →

Function. Crystallins are the dominant structural components of the vertebrate eye lens.

Subunit / interactions. Monomer.

Disease relevance. Cataract 2, multiple types (CTRCT2) [MIM:604307] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. CTRCT2 includes Coppock-like cataract, among others. Coppock-like cataract is a congenital pulverulent disk-like opacity involving the embryonic nucleus with many tiny white dots in the lamellar portion of the lens. It is usually bilateral and dominantly inherited. In some cases, CTRCT2 is associated with microcornea without any other systemic anomaly or dysmorphism. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Has a two-domain beta-structure, folded into four very similar Greek key motifs.

Similarity. Belongs to the beta/gamma-crystallin family.

RefSeq proteins (1): NP_066269* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001064	Beta/gamma_crystallin	Domain
IPR011024	G_crystallin-like	Homologous_superfamily
IPR050252	Beta/Gamma-Crystallin	Family

Pfam: PF00030

UniProt features (37 total): strand 14, sequence variant 7, turn 6, domain 4, helix 2, initiator methionine 1, chain 1, region of interest 1, modified residue 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
2NBR	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P07315-F1	96.66	0.97

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (1): 23

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 67 (showing top): HOEGERKORP_CD44_TARGETS_TEMPORAL_DN, COUP_01, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, AACTTT_UNKNOWN, MODULE_544, GOBP_SENSORY_PERCEPTION, GOBP_SENSORY_ORGAN_DEVELOPMENT, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE, GOMF_STRUCTURAL_CONSTITUENT_OF_EYE_LENS, YOSHIMURA_MAPK8_TARGETS_UP, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, BRUINS_UVC_RESPONSE_VIA_TP53_GROUP_D, GOBP_SENSORY_SYSTEM_DEVELOPMENT, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY

GO Biological Process (2): lens development in camera-type eye (GO:0002088), visual perception (GO:0007601)

GO Molecular Function (2): structural constituent of eye lens (GO:0005212), protein binding (GO:0005515)

GO Cellular Component (2): nucleus (GO:0005634), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
camera-type eye development	1
anatomical structure development	1
sensory perception of light stimulus	1
structural molecule activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
cellular anatomical structure	1

Protein interactions and networks

STRING

2061 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRYGC	CCR5	P51681	887
CRYGC	CCR2	P41597	884
CRYGC	CCR1	P32246	867
CRYGC	CCRL2	O00421	838
CRYGC	CRYAA	P02489	835
CRYGC	CCR6	P51684	832
CRYGC	BFSP2	Q13515	800
CRYGC	GJA8	P48165	797
CRYGC	GJA3	Q9Y6H8	795
CRYGC	CCL2	P13500	761
CRYGC	CCL3	P10147	754
CRYGC	IL6	P05231	733
CRYGC	CCL22	O00626	729
CRYGC	ACKR2	O00590	727
CRYGC	CCL28	Q9NRJ3	725

IntAct

23 interactions, top by confidence:

A	B	Type	Score
CRYAA	CRYGC	psi-mi:“MI:0915”(physical association)	0.650
CRYAB	CRYGC	psi-mi:“MI:0915”(physical association)	0.650
CRYGC	CRYBB2	psi-mi:“MI:0915”(physical association)	0.650
CRYBB2	CRYGC	psi-mi:“MI:0915”(physical association)	0.650
CRYGC	CRYAB	psi-mi:“MI:0915”(physical association)	0.650
CRYGC	CRYAA	psi-mi:“MI:0915”(physical association)	0.650
CRYAA	CRYGC	psi-mi:“MI:0914”(association)	0.650
CRYGC	CRYBB2	psi-mi:“MI:0914”(association)	0.650
CRYAB	CRYGC	psi-mi:“MI:0914”(association)	0.650
CRYGC	CRYGB	psi-mi:“MI:0915”(physical association)	0.590
CRYGC	TRIM7	psi-mi:“MI:0915”(physical association)	0.560
CRYGC	CRYGC	psi-mi:“MI:0915”(physical association)	0.370
DISC1	AGRN	psi-mi:“MI:0914”(association)	0.350
CRYGC	TRIM7	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (27): CRYGB (Affinity Capture-MS), CRYGB (Affinity Capture-MS), CRYGC (Affinity Capture-MS), CRYGC (Two-hybrid), CRYGC (Negative Genetic), CRYGC (Two-hybrid), CRYAA (Two-hybrid), CRYGC (Two-hybrid), CRYAB (Two-hybrid), CRYGC (Two-hybrid), CRYBB2 (Two-hybrid), CRYAA (Affinity Capture-Western), CRYAB (Affinity Capture-Western), CRYBB2 (Affinity Capture-Western), CRYGC (Two-hybrid)

ESM2 similar proteins: A2IBY7, A3RLD7, A3RLD8, A3RLE1, A4L9I8, O35486, P02527, P02528, P02529, P02530, P02531, P04342, P04344, P04345, P06504, P07315, P07316, P07320, P08209, P0C5E9, P10065, P10066, P10067, P10068, P10112, P11844, P22914, P23005, P26444, P48646, P48647, P48649, P49152, P53673, P55164, P55940, P55941, Q03740, Q06254, Q06255

Diamond homologs: A2IBH5, A2IBY7, A2ICR5, A3RLD7, A3RLD8, A3RLE1, A3RLE2, A4L9I8, A4L9I9, A4QNB6, D3ZEG1, F6Q2R9, O35486, P02522, P02523, P02524, P02525, P02526, P02527, P02528, P02529, P02530, P02531, P04342, P04344, P04345, P05813, P06504, P07315, P07316, P07317, P07318, P07320, P07530, P08209, P0C5E9, P10042, P10043, P10065, P10066

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
CRYGC	up-regulates	Maintenance_of_lens_transparency
CRYAB	“up-regulates activity”	CRYGC	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

104 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	14
Likely pathogenic	6
Uncertain significance	52
Likely benign	12
Benign	10

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
1033968	NM_020989.4(CRYGC):c.423del (p.Arg142fs)	Pathogenic
1321018	NM_020989.4(CRYGC):c.424del (p.Arg142fs)	Pathogenic
1341367	NM_020989.4(CRYGC):c.394del (p.Val132fs)	Pathogenic
16943	NM_020989.4(CRYGC):c.13A>C (p.Thr5Pro)	Pathogenic
1701407	NM_020989.4(CRYGC):c.469delinsAG (p.Trp157fs)	Pathogenic
217337	NM_020989.4(CRYGC):c.328_329delinsT (p.Pro110fs)	Pathogenic
3242235	NM_020989.4(CRYGC):c.386_389dup (p.Cys130fs)	Pathogenic
3342206	NM_020989.4(CRYGC):c.402C>A (p.Tyr134Ter)	Pathogenic
3347843	NM_020989.4(CRYGC):c.417C>G (p.Tyr139Ter)	Pathogenic
429726	NM_020989.4(CRYGC):c.427C>T (p.Gln143Ter)	Pathogenic
534186	NM_020989.4(CRYGC):c.423dup (p.Arg142fs)	Pathogenic
620195	NM_020989.4(CRYGC):c.432C>G (p.Tyr144Ter)	Pathogenic
66075	NM_020989.4(CRYGC):c.471G>A (p.Trp157Ter)	Pathogenic
68475	NM_020989.4(CRYGC):c.497C>T (p.Ser166Phe)	Pathogenic
1475373	NM_020989.4(CRYGC):c.418dup (p.Arg140fs)	Likely pathogenic
2031157	NM_020989.4(CRYGC):c.411_417delinsTCGTAGACGGGGCAATACCCTCGTAGACGGGCAATACCTCGTAGACGGGGCAATACCCTCGTAGA (p.Asn138_Tyr139delinsArgArgArgGlyAsnThrLeuValAspGlyGlnTyrLeuValAspGlyAlaIleProSerTer)	Likely pathogenic
3061306	NM_020989.4(CRYGC):c.432C>A (p.Tyr144Ter)	Likely pathogenic
3253735	NM_020989.4(CRYGC):c.337C>T (p.Gln113Ter)	Likely pathogenic
3345579	NM_020989.4(CRYGC):c.156del (p.Gly53fs)	Likely pathogenic
4081299	NM_020989.4(CRYGC):c.178C>T (p.Arg60Ter)	Likely pathogenic

SpliceAI

157 predictions. Top by Δscore:

Variant	Effect	Δscore
2:208128472:CTGT:C	acceptor_gain	1.0000
2:208128486:C:CT	acceptor_gain	1.0000
2:208128486:C:T	acceptor_gain	1.0000
2:208128488:C:CT	acceptor_gain	1.0000
2:208129437:TCA:T	donor_loss	1.0000
2:208129438:CACT:C	donor_loss	1.0000
2:208129439:A:AC	donor_gain	1.0000
2:208129439:A:C	donor_loss	1.0000
2:208129440:C:CA	donor_gain	1.0000
2:208129440:CTT:C	donor_gain	1.0000
2:208129510:C:A	donor_gain	1.0000
2:208128482:G:T	acceptor_gain	0.9900
2:208128489:A:T	acceptor_gain	0.9900
2:208129434:AACT:A	donor_loss	0.9900
2:208129435:ACTC:A	donor_loss	0.9900
2:208129440:CT:C	donor_gain	0.9900
2:208129440:CTTG:C	donor_gain	0.9900
2:208129440:CTTGG:C	donor_gain	0.9900
2:208129509:C:CA	donor_gain	0.9900
2:208128499:A:C	acceptor_gain	0.9800
2:208128474:GT:G	acceptor_gain	0.9700
2:208128474:GTCT:G	acceptor_loss	0.9700
2:208128476:C:A	acceptor_loss	0.9700
2:208128476:C:CC	acceptor_gain	0.9700
2:208128477:T:A	acceptor_loss	0.9700
2:208128481:C:CT	acceptor_gain	0.9700
2:208128499:A:AC	acceptor_gain	0.9700
2:208129485:T:TA	donor_gain	0.9700
2:208129684:C:CC	acceptor_gain	0.9700
2:208129779:CTCA:C	donor_loss	0.9700

AlphaMissense

1144 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:208129590:A:G	S35P	0.991
2:208129566:A:G	W43R	0.987
2:208129566:A:T	W43R	0.987
2:208129589:G:A	S35F	0.986
2:208129559:A:T	L45H	0.985
2:208129676:A:G	F6S	0.985
2:208129557:A:C	Y46D	0.984
2:208128337:A:G	W131R	0.983
2:208128337:A:T	W131R	0.983
2:208129488:A:G	W69R	0.983
2:208129488:A:T	W69R	0.983
2:208129657:G:C	F12L	0.983
2:208129657:G:T	F12L	0.983
2:208129659:A:G	F12L	0.983
2:208129653:C:G	G14R	0.981
2:208128343:C:G	G129R	0.979
2:208129596:A:G	C33R	0.979
2:208129594:G:C	C33W	0.978
2:208129595:C:T	C33Y	0.978
2:208129458:A:G	C79R	0.977
2:208128335:C:A	W131C	0.976
2:208128335:C:G	W131C	0.976
2:208129652:C:A	G14V	0.976
2:208129460:G:A	S78F	0.975
2:208129674:A:C	Y7D	0.975
2:208129536:C:G	G53R	0.974
2:208129653:C:A	G14C	0.974
2:208129583:C:G	R37P	0.973
2:208129559:A:C	L45R	0.970
2:208129682:A:G	I4T	0.970

dbSNP variants (sampled 300 via entrez): RS1000104455 (2:208129102 A>G), RS1001359451 (2:208129000 T>C), RS1001883447 (2:208130739 G>C), RS1003629575 (2:208129838 G>A,T), RS1004216287 (2:208129890 C>A,T), RS1004974063 (2:208130989 T>C), RS1006264295 (2:208131675 T>C), RS1006933009 (2:208127950 C>A,T), RS1007485817 (2:208131341 C>A,T), RS1008268449 (2:208129100 C>T), RS1010485981 (2:208131415 T>C), RS1010812479 (2:208131126 A>G), RS1011315212 (2:208129061 G>A), RS1011368032 (2:208128729 C>T), RS1013829834 (2:208129198 G>A)

Disease associations

OMIM: gene MIM:123680 | disease phenotypes: MIM:604307, MIM:605472, MIM:601371

GenCC curated gene-disease

Disease	Classification	Inheritance
cataract 2, multiple types	Definitive	Autosomal dominant
cataract - microcornea syndrome	Supportive	Autosomal dominant
early-onset lamellar cataract	Supportive	Autosomal dominant
pulverulent cataract	Supportive	Autosomal dominant
early-onset nuclear cataract	Supportive	Autosomal dominant

Mondo (7): cataract 2, multiple types (MONDO:0100436), Usher syndrome type 2C (MONDO:0011558), early-onset non-syndromic cataract (MONDO:0011060), cataract - microcornea syndrome (MONDO:0015300), early-onset lamellar cataract (MONDO:0018611), pulverulent cataract (MONDO:0011430), early-onset nuclear cataract (MONDO:0020376)

Orphanet (3): Early onset non-syndromic cataract (Orphanet:91492), Usher syndrome type 2 (Orphanet:231178), Usher syndrome (Orphanet:886)

HPO phenotypes

15 total (15 of 15 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000482	Microcornea
HP:0000505	Visual impairment
HP:0000518	Cataract
HP:0000519	Developmental cataract
HP:0000545	Myopia
HP:0000612	Iris coloboma
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000646	Amblyopia
HP:0001131	Corneal dystrophy
HP:0007957	Corneal opacity
HP:0010698	Nuclear pulverulent cataract
HP:0010926	Aculeiform cataract
HP:0100018	Nuclear cataract

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST000246_8	Attention deficit hyperactivity disorder	8.000000e-06

MeSH disease descriptors (4)

Descriptor	Name	Tree numbers
C538287	Cataract microcornea syndrome (supp.)
C563333	Cataract, Age-Related Nuclear (supp.)
C565133	Cataract, Coppock-Like (supp.)
C536492	Usher syndrome, type 2C (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4296285 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

9 total (human), top 9 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
butyraldehyde	increases expression	1
CGP 52608	affects binding, increases reaction	1
Resveratrol	affects cotreatment, decreases expression	1
Arsenic	affects methylation	1
Benzo(a)pyrene	decreases methylation	1
Carbamazepine	affects expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Aflatoxin B1	increases methylation	1

ChEMBL screening assays

9 unique, capped per target: 9 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4201168	Binding	Inhibition of gamma-crystallin C G129C mutant (unknown origin)-induced intracellular protein aggregation expressed in human HeLa cells or HLE-B3 cells at 4 uM incubated for 6 to 8 hrs by fluorescence microscopy relative to untreated control	Synthesis, Evaluation, and Structure-Activity Relationship Study of Lanosterol Derivatives To Reverse Mutant-Crystallin-Induced Protein Aggregation. — J Med Chem

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.