CRYGB

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G) are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes, gamma-crystallins have been involved in cataract formation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* visual perception (GO:0007601)8.51532364
2* sensory perception of light stimulus (GO:0050953)8.41316812
3camera-type eye development (GO:0043010)8.18421224
4cytolysis (GO:0019835)8.11427851
5histone H3-K9 demethylation (GO:0033169)7.58079827
6muscle cell cellular homeostasis (GO:0046716)7.50633462
7protein refolding (GO:0042026)7.47843071
8bile acid and bile salt transport (GO:0015721)6.74613986
9cellular response to osmotic stress (GO:0071470)6.72464682
10regulation of protein sumoylation (GO:0033233)6.67438270
11eye development (GO:0001654)6.60335732
12myofibril assembly (GO:0030239)6.13582340
13sensory organ development (GO:0007423)5.05395072
14positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)4.98412281
15response to salt stress (GO:0009651)4.73306226
16insulin-like growth factor receptor signaling pathway (GO:0048009)4.65718888
17negative regulation of homotypic cell-cell adhesion (GO:0034111)4.62181929
18sarcomere organization (GO:0045214)4.46821842
19lens development in camera-type eye (GO:0002088)36.2123065
20regulation of myoblast differentiation (GO:0045661)3.95895656
21* sensory perception (GO:0007600)3.91296126
22protein homotrimerization (GO:0070207)3.71041494
23positive regulation of dendritic spine morphogenesis (GO:0061003)3.66074956
24lung epithelium development (GO:0060428)3.52054554
25regulation of Rac protein signal transduction (GO:0035020)3.40201800
26water transport (GO:0006833)3.33314279
27regulation of platelet aggregation (GO:0090330)3.31469046
28positive regulation of wound healing (GO:0090303)3.15567341
29positive regulation of calcium ion transport into cytosol (GO:0010524)3.12837158
30regulation of skeletal muscle fiber development (GO:0048742)3.07537679
31lens fiber cell development (GO:0070307)26.4973379
32lens fiber cell differentiation (GO:0070306)20.9455861
33intermediate filament cytoskeleton organization (GO:0045104)2.92688561
34cellular response to calcium ion (GO:0071277)2.89102966
35fluid transport (GO:0042044)2.86947580
36intermediate filament-based process (GO:0045103)2.81494619
37histone lysine demethylation (GO:0070076)2.71248105
38dopaminergic neuron differentiation (GO:0071542)2.65705419
39response to activity (GO:0014823)2.64929258
40cerebellar granule cell differentiation (GO:0021707)2.60286433
41respiratory tube development (GO:0030323)2.59147521
42negative regulation of platelet activation (GO:0010544)2.58678826
43histone demethylation (GO:0016577)2.53040393
44mating behavior (GO:0007617)2.52363236
45skeletal muscle organ development (GO:0060538)2.49163062
46activation of JUN kinase activity (GO:0007257)2.48160021
47epithelial cell development (GO:0002064)2.46008918
48lung-associated mesenchyme development (GO:0060484)2.44057012
49actomyosin structure organization (GO:0031032)2.40558488
50negative regulation of cell size (GO:0045792)2.35911984
51L-alpha-amino acid transmembrane transport (GO:1902475)2.35760713
52regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.31671514
53regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.29992880
54regulation of myotube differentiation (GO:0010830)2.28000328
55protein dealkylation (GO:0008214)2.23293977
56protein demethylation (GO:0006482)2.23293977
57response to osmotic stress (GO:0006970)2.20448153
58diaphragm development (GO:0060539)2.20153984
59cell-cell junction assembly (GO:0007043)2.16615693
60basement membrane organization (GO:0071711)2.15117156
61positive regulation of dendritic spine development (GO:0060999)2.12984643
62prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.11373245
63positive regulation of dendrite morphogenesis (GO:0050775)2.08509496
64regulation of homotypic cell-cell adhesion (GO:0034110)2.07112649
65protein localization to cell surface (GO:0034394)2.04853356
66collecting duct development (GO:0072044)2.04641419
67neuronal stem cell maintenance (GO:0097150)2.02433507
68metanephric nephron tubule development (GO:0072234)2.00960968
69metanephric tubule development (GO:0072170)2.00960968
70lens morphogenesis in camera-type eye (GO:0002089)10.6973423
71response to muscle activity (GO:0014850)10.1378644
72dorsal/ventral axis specification (GO:0009950)1.97200753
73negative regulation of hormone biosynthetic process (GO:0032353)1.95784837
74negative regulation of hormone metabolic process (GO:0032351)1.95784837
75protein trimerization (GO:0070206)1.94335092
76carnitine shuttle (GO:0006853)1.92956040
77apoptotic process involved in morphogenesis (GO:0060561)1.91022081
78apoptotic process involved in development (GO:1902742)1.90625865
79positive regulation of developmental growth (GO:0048639)1.88857878
80cytoskeletal anchoring at plasma membrane (GO:0007016)1.88616228
81negative regulation of potassium ion transmembrane transport (GO:1901380)1.87189543
82cellular response to prostaglandin stimulus (GO:0071379)1.84568323
83regulation of dendritic spine morphogenesis (GO:0061001)1.83541478
84metanephric nephron epithelium development (GO:0072243)1.82549753
85cell maturation (GO:0048469)1.81117602
86negative regulation of JUN kinase activity (GO:0043508)1.79735715
87cellular response to vitamin D (GO:0071305)1.79431144
88negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.76085488
89anatomical structure regression (GO:0060033)1.72610174
90regulation of skeletal muscle tissue development (GO:0048641)1.69653730
91fatty acid transmembrane transport (GO:1902001)1.69353612
92bone trabecula formation (GO:0060346)1.66760264
93cartilage morphogenesis (GO:0060536)1.65552052
94planar cell polarity pathway involved in neural tube closure (GO:0090179)1.65463415
95regulation of calcium ion transport into cytosol (GO:0010522)1.65194217
96regulation of striated muscle cell differentiation (GO:0051153)1.64649239
97regulation of bile acid biosynthetic process (GO:0070857)1.63869984
98phosphatidylinositol 3-kinase signaling (GO:0014065)1.61916339
99regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)1.60146150
100regulation of wound healing (GO:0061041)1.59227409

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.41773364
2ZNF652_21678463_ChIP-ChIP_ZR75-1_Human5.13074757
3CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.90357001
4IKZF1_21737484_ChIP-ChIP_HCT116_Human3.33657735
5EGR1_19032775_ChIP-ChIP_M12_Human3.07320095
6SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.63313286
7EZH2_22144423_ChIP-Seq_EOC_Human2.14048230
8* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.08777454
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.03938777
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.03235152
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.03235152
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse10.3411609
13* PCGF2_27294783_Chip-Seq_NPCs_Mouse1.95888870
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.95837996
15NANOG_16153702_ChIP-ChIP_HESCs_Human1.93924645
16JARID2_20064375_ChIP-Seq_MESCs_Mouse1.91357232
17ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.86361403
18EGR1_19374776_ChIP-ChIP_THP-1_Human1.85332615
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.72618455
20EED_16625203_ChIP-ChIP_MESCs_Mouse1.71075564
21SUZ12_27294783_Chip-Seq_NPCs_Mouse1.69508202
22GATA3_24758297_ChIP-Seq_MCF-7_Human1.65197738
23RNF2_27304074_Chip-Seq_ESCs_Mouse1.61650762
24WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.61047050
25NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.59145626
26SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.57876296
27CDX2_19796622_ChIP-Seq_MESCs_Mouse1.53463646
28TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43746230
29ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.43495520
30MTF2_20144788_ChIP-Seq_MESCs_Mouse1.42661730
31CBX2_27304074_Chip-Seq_ESCs_Mouse1.42253351
32JARID2_20075857_ChIP-Seq_MESCs_Mouse1.37273884
33EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.36615454
34GATA1_22025678_ChIP-Seq_K562_Human1.34584911
35CTCF_27219007_Chip-Seq_Bcells_Human1.32169978
36* NFE2_27457419_Chip-Seq_LIVER_Mouse1.31448784
37EP300_21415370_ChIP-Seq_HL-1_Mouse1.31055541
38EZH2_27304074_Chip-Seq_ESCs_Mouse1.30380362
39EZH2_27294783_Chip-Seq_ESCs_Mouse1.29834688
40ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.29222149
41JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.27970272
42TBX3_20139965_ChIP-Seq_MESCs_Mouse1.27620760
43TBX3_20139965_ChIP-Seq_ESCs_Mouse1.27138015
44JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.25429272
45ZFP281_18757296_ChIP-ChIP_E14_Mouse1.24360325
46TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24268422
47TP53_20018659_ChIP-ChIP_R1E_Mouse1.22179413
48TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.21291094
49FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.17439758
50GATA1_19941827_ChIP-Seq_MEL86_Mouse1.17268445
51LXR_22292898_ChIP-Seq_THP-1_Human1.16948214
52* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.16667313
53SALL4_22934838_ChIP-ChIP_CD34+_Human1.14973372
54RING1B_27294783_Chip-Seq_NPCs_Mouse1.13918681
55LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.13179087
56PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.10249465
57FOXA2_19822575_ChIP-Seq_HepG2_Human1.09816759
58ZNF263_19887448_ChIP-Seq_K562_Human1.09506967
59VDR_22108803_ChIP-Seq_LS180_Human1.08644179
60* CTCF_18555785_Chip-Seq_ESCs_Mouse1.07055260
61SMC3_22415368_ChIP-Seq_MEFs_Mouse1.06656355
62SALL4_18804426_ChIP-ChIP_XEN_Mouse1.05163016
63TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.05000848
64* EZH2_27294783_Chip-Seq_NPCs_Mouse1.04980421
65RING1B_27294783_Chip-Seq_ESCs_Mouse1.04947920
66TP63_17297297_ChIP-ChIP_HaCaT_Human1.03750727
67ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03366019
68* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.01365729
69GATA2_21666600_ChIP-Seq_HMVEC_Human1.00611229
70SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.00215406
71* RUNX1_27457419_Chip-Seq_LIVER_Mouse1.00166691
72SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.99798089
73PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.99502459
74NR3C1_23031785_ChIP-Seq_PC12_Mouse0.97388017
75SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.97187730
76ELK3_25401928_ChIP-Seq_HUVEC_Human0.96839117
77KDM2B_26808549_Chip-Seq_K562_Human0.96787901
78SMAD3_21741376_ChIP-Seq_ESCs_Human0.96327339
79ZNF274_21170338_ChIP-Seq_K562_Hela0.96148052
80TCF3_18692474_ChIP-Seq_MEFs_Mouse0.95764413
81CLOCK_20551151_ChIP-Seq_293T_Human0.94463141
82SUZ12_27294783_Chip-Seq_ESCs_Mouse0.93132885
83SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.92008330
84KDM2B_26808549_Chip-Seq_SUP-B15_Human0.89067316
85PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.86323809
86CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.85942076
87MYC_18940864_ChIP-ChIP_HL60_Human0.85430387
88RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.85383805
89CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85129115
90SMC1_22415368_ChIP-Seq_MEFs_Mouse0.83597236
91HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.83502256
92ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.83365403
93OCT4_19829295_ChIP-Seq_ESCs_Human0.82858260
94* PU1_27457419_Chip-Seq_LIVER_Mouse0.82738116
95TCF7_22412390_ChIP-Seq_EML_Mouse0.81530789
96RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.79596234
97KLF4_18555785_Chip-Seq_ESCs_Mouse0.78615811
98OCT4_18692474_ChIP-Seq_MEFs_Mouse0.78321410
99P53_22127205_ChIP-Seq_FIBROBLAST_Human0.77684706
100KDM2B_26808549_Chip-Seq_JURKAT_Human0.77482536

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye8.70464194
2MP0005253_abnormal_eye_physiology4.98432490
3MP0001286_abnormal_eye_development3.85439570
4MP0002092_abnormal_eye_morphology3.76808992
5MP0005197_abnormal_uvea_morphology3.75856917
6MP0000749_muscle_degeneration3.67741951
7MP0003941_abnormal_skin_development3.29347440
8MP0005391_vision/eye_phenotype3.20280646
9MP0002090_abnormal_vision2.42433107
10MP0001346_abnormal_lacrimal_gland2.19686634
11MP0002697_abnormal_eye_size14.2715625
12MP0002108_abnormal_muscle_morphology1.65244154
13MP0004272_abnormal_basement_membrane1.59116829
14MP0002269_muscular_atrophy1.48540805
15MP0005330_cardiomyopathy1.47598750
16MP0002638_abnormal_pupillary_reflex1.46021167
17MP0010368_abnormal_lymphatic_system1.34042231
18MP0005195_abnormal_posterior_eye1.18617601
19MP0002139_abnormal_hepatobiliary_system1.13399646
20MP0001299_abnormal_eye_distance/1.07258736
21MP0002735_abnormal_chemical_nociception1.01883749
22MP0003705_abnormal_hypodermis_morpholog0.99454963
23MP0005551_abnormal_eye_electrophysiolog0.93978034
24MP0001340_abnormal_eyelid_morphology0.89558418
25MP0004087_abnormal_muscle_fiber0.74626949
26MP0005319_abnormal_enzyme/_coenzyme0.74006341
27MP0004859_abnormal_synaptic_plasticity0.71636396
28MP0003123_paternal_imprinting0.68545737
29MP0005369_muscle_phenotype0.65708617
30MP0000049_abnormal_middle_ear0.65007414
31MP0009053_abnormal_anal_canal0.62453213
32MP0003252_abnormal_bile_duct0.61068705
33MP0000759_abnormal_skeletal_muscle0.59227986
34MP0001905_abnormal_dopamine_level0.53718445
35MP0000537_abnormal_urethra_morphology0.53696695
36MP0005187_abnormal_penis_morphology0.53283460
37MP0006292_abnormal_olfactory_placode0.49985237
38MP0002734_abnormal_mechanical_nocicepti0.48082633
39MP0009780_abnormal_chondrocyte_physiolo0.47653490
40MP0004885_abnormal_endolymph0.46069860
41MP0005085_abnormal_gallbladder_physiolo0.45602509
42MP0001915_intracranial_hemorrhage0.44122437
43MP0002736_abnormal_nociception_after0.43999366
44MP0002089_abnormal_postnatal_growth/wei0.43469583
45MP0005360_urolithiasis0.41979933
46MP0003787_abnormal_imprinting0.41666930
47MP0003635_abnormal_synaptic_transmissio0.41649378
48MP0002249_abnormal_larynx_morphology0.41448988
49MP0002653_abnormal_ependyma_morphology0.40505461
50MP0000747_muscle_weakness0.40371839
51MP0001968_abnormal_touch/_nociception0.39445558
52MP0003329_amyloid_beta_deposits0.38906716
53MP0001879_abnormal_lymphatic_vessel0.38837207
54MP0003566_abnormal_cell_adhesion0.38582806
55MP0005248_abnormal_Harderian_gland0.38089404
56MP0003656_abnormal_erythrocyte_physiolo0.38027549
57MP0000751_myopathy0.37618078
58MP0003115_abnormal_respiratory_system0.37051243
59MP0003942_abnormal_urinary_system0.36542950
60MP0005257_abnormal_intraocular_pressure0.36377603
61MP0001324_abnormal_eye_pigmentation0.34670191
62MP0002177_abnormal_outer_ear0.34063765
63MP0000428_abnormal_craniofacial_morphol0.33698240
64MP0009250_abnormal_appendicular_skeleto0.31418686
65MP0004270_analgesia0.31372250
66MP0001943_abnormal_respiration0.30548800
67MP0002063_abnormal_learning/memory/cond0.30433527
68MP0001958_emphysema0.30306408
69MP0010234_abnormal_vibrissa_follicle0.29368893
70MP0004134_abnormal_chest_morphology0.28804512
71MP0004811_abnormal_neuron_physiology0.28370450
72MP0004197_abnormal_fetal_growth/weight/0.28346181
73MP0002925_abnormal_cardiovascular_devel0.27417138
74MP0005623_abnormal_meninges_morphology0.27252797
75MP0004858_abnormal_nervous_system0.27250912
76MP0008438_abnormal_cutaneous_collagen0.26801213
77MP0000955_abnormal_spinal_cord0.26078227
78MP0002733_abnormal_thermal_nociception0.25158886
79MP0005647_abnormal_sex_gland0.24700990
80MP0003959_abnormal_lean_body0.24342500
81MP0002152_abnormal_brain_morphology0.23788290
82MP0002295_abnormal_pulmonary_circulatio0.23328348
83MP0001784_abnormal_fluid_regulation0.21930490
84MP0001614_abnormal_blood_vessel0.21588759
85MP0004084_abnormal_cardiac_muscle0.20738785
86MP0002106_abnormal_muscle_physiology0.20605277
87MP0002064_seizures0.19569057
88MP0003122_maternal_imprinting0.19313251
89MP0002128_abnormal_blood_circulation0.18120999
90MP0000266_abnormal_heart_morphology0.18004067
91MP0004233_abnormal_muscle_weight0.17384536
92MP0003119_abnormal_digestive_system0.17127762
93MP0002163_abnormal_gland_morphology0.17079910
94MP0000604_amyloidosis0.15584028
95MP0001502_abnormal_circadian_rhythm0.15478351
96MP0002882_abnormal_neuron_morphology0.15296277
97MP0002081_perinatal_lethality0.15288057
98MP0008770_decreased_survivor_rate0.15071176
99MP0010329_abnormal_lipoprotein_level0.14598202
100MP0004145_abnormal_muscle_electrophysio0.14264066

Predicted human phenotypes

RankGene SetZ-score
1Corneal dystrophy (HP:0001131)7.19496878
2Amblyopia (HP:0000646)7.00752764
3* Congenital cataract (HP:0000519)6.96450324
4Anterior segment dysgenesis (HP:0007700)5.95965604
5Polar cataract (HP:0010696)4.41545304
6Clumsiness (HP:0002312)3.95103113
7Microcornea (HP:0000482)3.62237796
8Nuclear cataract (HP:0100018)27.6161006
9Zonular cataract (HP:0010920)24.4658097
10Iris coloboma (HP:0000612)2.89648889
11Eosinophilia (HP:0001880)2.83278416
12Opacification of the corneal stroma (HP:0007759)2.60347231
13Abnormality of the anterior chamber (HP:0000593)2.53608004
14Sclerocornea (HP:0000647)2.31461068
15Granulocytopenia (HP:0001913)2.25318094
16Scapular winging (HP:0003691)2.10495143
17Proximal amyotrophy (HP:0007126)2.09242235
18Congenital primary aphakia (HP:0007707)2.08194720
19Abnormality of eosinophils (HP:0001879)1.92486946
20Posterior subcapsular cataract (HP:0007787)1.92314710
21Aplasia/Hypoplasia of the lens (HP:0008063)1.78720818
22Neonatal respiratory distress (HP:0002643)1.63818472
23Aplasia/Hypoplasia of the macula (HP:0008059)1.62432932
24Fetal akinesia sequence (HP:0001989)1.55867205
25Aplasia/Hypoplasia affecting the retina (HP:0008061)1.54380339
26Popliteal pterygium (HP:0009756)1.48762875
27Long clavicles (HP:0000890)1.47601150
28Aplasia of the musculature (HP:0100854)1.46027484
29Amniotic constriction ring (HP:0009775)1.34478575
30Abnormality of placental membranes (HP:0011409)1.34478575
31Akinesia (HP:0002304)1.32045864
32Hypoplastic nipples (HP:0002557)1.29828711
33Difficulty walking (HP:0002355)1.27841583
34Abnormality of the shoulder girdle musculature (HP:0001435)1.26893902
35Leukocytosis (HP:0001974)1.25890362
36Rib fusion (HP:0000902)1.11834155
37Fused cervical vertebrae (HP:0002949)1.07036169
38Symphalangism affecting the phalanges of the hand (HP:0009773)1.04305581
39Subcapsular cataract (HP:0000523)1.03333825
40Vertebral clefting (HP:0008428)0.98920486
41Abnormality of the labia majora (HP:0012881)0.94675478
42Aplasia/Hypoplasia involving the musculature (HP:0001460)0.83950569
43Exostoses (HP:0100777)0.82067350
44Chorioretinal coloboma (HP:0000567)0.80871519
45Severe visual impairment (HP:0001141)0.77615532
46Pterygium (HP:0001059)0.76632191
47Lymphangioma (HP:0100764)0.73165279
48Malignant hyperthermia (HP:0002047)0.72576805
49Camptodactyly of toe (HP:0001836)0.72281397
50Thin ribs (HP:0000883)0.69230058
51Ependymoma (HP:0002888)0.67980281
52Hypoplastic heart (HP:0001961)0.67587874
53Neoplasm of the heart (HP:0100544)0.67249597
54Abnormal number of incisors (HP:0011064)0.66393349
55Aplasia/Hypoplasia of the nipples (HP:0006709)0.58712280
56Diminished movement (HP:0002374)0.55755675
57Cystic hygroma (HP:0000476)0.55594918
58Dislocated radial head (HP:0003083)0.55179480
59Muscle fiber splitting (HP:0003555)0.53058052
60Pointed chin (HP:0000307)0.53021913
61Abnormality of the humeroradial joint (HP:0100744)0.52804305
62Split foot (HP:0001839)0.51824432
63Enlarged kidneys (HP:0000105)0.51602182
64Abnormality of the radial head (HP:0003995)0.50894495
65Hepatoblastoma (HP:0002884)0.50825280
66Abnormality of the astrocytes (HP:0100707)0.50442296
67Astrocytoma (HP:0009592)0.50442296
68Joint contractures involving the joints of the feet (HP:0100492)0.49320618
69Flexion contracture of toe (HP:0005830)0.49320618
70Hypoplastic pelvis (HP:0008839)0.48884326
71Visceral angiomatosis (HP:0100761)0.48831215
72Hyporeflexia of lower limbs (HP:0002600)0.48460025
73Annular pancreas (HP:0001734)0.47532633
74Hamartoma of the eye (HP:0010568)0.47370106
75* Autosomal dominant inheritance (HP:0000006)0.46200974
76Broad nasal tip (HP:0000455)0.45803515
77Skin nodule (HP:0200036)0.45588891
78Hemiplegia (HP:0002301)0.44861425
79Abnormality of cochlea (HP:0000375)0.44450056
80Buphthalmos (HP:0000557)0.44396846
81Hemangiomatosis (HP:0007461)0.44182422
82Patellar aplasia (HP:0006443)0.43338432
83Neonatal hypoglycemia (HP:0001998)0.42953610
84Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.42952832
85Abnormality of the labia (HP:0000058)0.42033744
86Hypopigmentation of the fundus (HP:0007894)0.40618447
87Exercise-induced muscle cramps (HP:0003710)0.40309119
88Deep venous thrombosis (HP:0002625)0.40191093
89Exercise-induced myalgia (HP:0003738)0.38864829
90Synostosis involving the elbow (HP:0003938)0.38425314
91Humeroradial synostosis (HP:0003041)0.38425314
92Abnormal pancreas size (HP:0012094)0.37953513
93Aplasia/Hypoplasia of the patella (HP:0006498)0.37749836
94Adenoma sebaceum (HP:0009720)0.37734002
95Angiofibromas (HP:0010615)0.37734002
96Overgrowth (HP:0001548)0.37131087
97Hyperthyroidism (HP:0000836)0.36983989
98Chorioretinal atrophy (HP:0000533)0.36649055
99Aplasia/Hypoplasia of the pubic bone (HP:0009104)0.36063360
100Abnormalities of placenta or umbilical cord (HP:0001194)0.34354700

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.31371205
2BLK4.89813598
3SGK14.26399019
4STK393.16149761
5WNK43.01658667
6NTRK12.78679712
7MST42.74978457
8FLT32.73554776
9PRKG12.63436112
10SIK12.40379265
11PKN22.35612869
12TRIB32.11344047
13MET1.76348028
14PDGFRA1.74136901
15PRKCB1.68061837
16LRRK21.67469985
17MAPK101.51334734
18INSR1.50202471
19PNCK1.42618436
20EPHB21.41964162
21MAP3K101.32545328
22ERBB21.23793303
23PRKACB1.20538384
24ICK1.20435975
25CDK61.17527841
26WNK11.16895049
27ZAP701.15525362
28PTK61.12524109
29STK101.08997760
30EPHA41.08520362
31RPS6KA31.08107686
32PAK41.03429079
33SCYL20.97322628
34ROCK20.88008156
35PAK60.88007898
36PRKCQ0.86908660
37PTK20.85732638
38PKN10.84204944
39CAMKK10.79031445
40PRKACG0.77515085
41CAMK1G0.74908516
42PHKG20.73732436
43PHKG10.73732436
44CSF1R0.72196085
45PAK30.71198099
46SGK2230.70897652
47SGK4940.70897652
48ILK0.70073377
49LATS10.66975092
50LATS20.59013281
51ROCK10.58754767
52EPHA20.57942074
53MINK10.55356279
54RPS6KA20.53142188
55FGFR10.53061907
56UHMK10.51411505
57MAPKAPK50.49773743
58CSNK2A20.47533743
59CDK50.43141973
60ALK0.40070206
61EGFR0.38269400
62ADRBK10.38254687
63NTRK30.37304129
64PRKCH0.37026279
65PAK20.35301837
66HIPK20.34995210
67PDGFRB0.34343470
68RPS6KA10.34098702
69PTK2B0.33920697
70KSR10.30611088
71FER0.29726361
72CSNK1E0.29504519
73TTN0.29154463
74IRAK20.28387818
75NEK90.28367434
76MARK10.27720173
77MKNK10.27491937
78RPS6KC10.25076971
79RPS6KL10.25076971
80PRKCA0.23584977
81CDK140.23344599
82FYN0.23297453
83MAP3K80.22834210
84JAK30.22814341
85FGFR20.22176062
86BMX0.21841994
87KSR20.21701308
88TBK10.20524729
89MAPKAPK20.20483735
90MAP3K90.20375141
91FGR0.20164100
92AKT20.20135428
93CSNK1A1L0.19376881
94DYRK20.17681527
95SRC0.17533179
96PRKACA0.16954418
97DAPK20.16438102
98CDK150.16386110
99RIPK10.16225937
100DMPK0.16116442

Predicted pathways (KEGG)

RankGene SetZ-score
1Small cell lung cancer_Homo sapiens_hsa052222.37571593
2Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.30305322
3Nitrogen metabolism_Homo sapiens_hsa009102.29530668
4Hedgehog signaling pathway_Homo sapiens_hsa043401.96136076
5Central carbon metabolism in cancer_Homo sapiens_hsa052301.94867998
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.92691709
7Basal cell carcinoma_Homo sapiens_hsa052171.85768863
8Primary bile acid biosynthesis_Homo sapiens_hsa001201.82860139
9Adherens junction_Homo sapiens_hsa045201.73038104
10Melanogenesis_Homo sapiens_hsa049161.63685359
11Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.59642250
12mTOR signaling pathway_Homo sapiens_hsa041501.56524128
13Arginine biosynthesis_Homo sapiens_hsa002201.54544940
14Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.47786041
15Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.47294214
16Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.45753169
17Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.45042783
18Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.42252618
19Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.40817105
20Circadian entrainment_Homo sapiens_hsa047131.36045147
21Synaptic vesicle cycle_Homo sapiens_hsa047211.32878288
22ECM-receptor interaction_Homo sapiens_hsa045121.30384899
23GABAergic synapse_Homo sapiens_hsa047271.30373543
24Olfactory transduction_Homo sapiens_hsa047401.28102946
25Proteoglycans in cancer_Homo sapiens_hsa052051.25070062
26Glioma_Homo sapiens_hsa052141.23077471
27Insulin signaling pathway_Homo sapiens_hsa049101.21136470
28Amoebiasis_Homo sapiens_hsa051461.19227172
29Wnt signaling pathway_Homo sapiens_hsa043101.17167072
30Bile secretion_Homo sapiens_hsa049761.16392104
31Fatty acid degradation_Homo sapiens_hsa000711.12633803
32Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11190925
33Biosynthesis of amino acids_Homo sapiens_hsa012301.11092776
34Long-term potentiation_Homo sapiens_hsa047201.09330366
35Glucagon signaling pathway_Homo sapiens_hsa049221.08699553
36Dorso-ventral axis formation_Homo sapiens_hsa043201.05331332
37Protein digestion and absorption_Homo sapiens_hsa049740.99167698
38Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.98905385
39Axon guidance_Homo sapiens_hsa043600.97039805
40Tight junction_Homo sapiens_hsa045300.96629624
41Focal adhesion_Homo sapiens_hsa045100.96527179
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.94848214
43Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.94349010
44Hippo signaling pathway_Homo sapiens_hsa043900.93613290
45Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.92728308
46Type II diabetes mellitus_Homo sapiens_hsa049300.90934593
47Longevity regulating pathway - mammal_Homo sapiens_hsa042110.90894564
48Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.90279426
49Renal cell carcinoma_Homo sapiens_hsa052110.89339295
50Adipocytokine signaling pathway_Homo sapiens_hsa049200.87444843
51Cysteine and methionine metabolism_Homo sapiens_hsa002700.86980470
52Gap junction_Homo sapiens_hsa045400.86859313
53Cholinergic synapse_Homo sapiens_hsa047250.86254066
54Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.86051966
55Phospholipase D signaling pathway_Homo sapiens_hsa040720.85388719
56Glutamatergic synapse_Homo sapiens_hsa047240.83822226
57AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.82871437
58Sulfur metabolism_Homo sapiens_hsa009200.81764515
59Pathways in cancer_Homo sapiens_hsa052000.80442702
60Gastric acid secretion_Homo sapiens_hsa049710.79988583
61Thyroid hormone signaling pathway_Homo sapiens_hsa049190.79889238
62Dopaminergic synapse_Homo sapiens_hsa047280.79620350
63Insulin secretion_Homo sapiens_hsa049110.79429078
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.76306031
65Insulin resistance_Homo sapiens_hsa049310.75803922
66Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.74522997
67Fatty acid metabolism_Homo sapiens_hsa012120.73898289
68Butanoate metabolism_Homo sapiens_hsa006500.73756365
69Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.73614251
70Vibrio cholerae infection_Homo sapiens_hsa051100.73065055
71Estrogen signaling pathway_Homo sapiens_hsa049150.72399205
72Phototransduction_Homo sapiens_hsa047440.72074866
73Arginine and proline metabolism_Homo sapiens_hsa003300.71839246
74Prion diseases_Homo sapiens_hsa050200.68692817
75Chronic myeloid leukemia_Homo sapiens_hsa052200.66434763
76Oxytocin signaling pathway_Homo sapiens_hsa049210.65878539
77Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.64986388
78Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.64186579
79Dilated cardiomyopathy_Homo sapiens_hsa054140.63167229
80Tryptophan metabolism_Homo sapiens_hsa003800.62980141
81Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62864826
82ErbB signaling pathway_Homo sapiens_hsa040120.62515352
83Carbon metabolism_Homo sapiens_hsa012000.62103645
84Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.59978334
85Maturity onset diabetes of the young_Homo sapiens_hsa049500.59796887
86Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.59718691
87Neurotrophin signaling pathway_Homo sapiens_hsa047220.59594911
88AMPK signaling pathway_Homo sapiens_hsa041520.58496904
89Thyroid cancer_Homo sapiens_hsa052160.57833813
90Amphetamine addiction_Homo sapiens_hsa050310.57479323
91Rap1 signaling pathway_Homo sapiens_hsa040150.57085552
92PPAR signaling pathway_Homo sapiens_hsa033200.56609003
93Long-term depression_Homo sapiens_hsa047300.56411535
94Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55369934
95Starch and sucrose metabolism_Homo sapiens_hsa005000.54044654
96Complement and coagulation cascades_Homo sapiens_hsa046100.54038450
97Morphine addiction_Homo sapiens_hsa050320.53974736
98MicroRNAs in cancer_Homo sapiens_hsa052060.53943725
99Toxoplasmosis_Homo sapiens_hsa051450.51636191
100Cocaine addiction_Homo sapiens_hsa050300.48031910

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