CRYGC

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: 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. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* visual perception (GO:0007601)8.63829323
2* sensory perception of light stimulus (GO:0050953)8.53383288
3cytolysis (GO:0019835)8.30226727
4histone H3-K9 demethylation (GO:0033169)7.56238528
5protein refolding (GO:0042026)7.54605087
6muscle cell cellular homeostasis (GO:0046716)7.49655925
7cellular response to osmotic stress (GO:0071470)7.05515386
8bile acid and bile salt transport (GO:0015721)6.72084254
9regulation of protein sumoylation (GO:0033233)6.62973368
10myofibril assembly (GO:0030239)6.10439992
11* camera-type eye development (GO:0043010)6.00876959
12* eye development (GO:0001654)5.00968011
13positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)4.92147901
14response to salt stress (GO:0009651)4.75508401
15insulin-like growth factor receptor signaling pathway (GO:0048009)4.68430368
16negative regulation of homotypic cell-cell adhesion (GO:0034111)4.56887242
17sarcomere organization (GO:0045214)4.47768617
18lens development in camera-type eye (GO:0002088)36.2929506
19* sensory perception (GO:0007600)3.95508171
20regulation of myoblast differentiation (GO:0045661)3.94255298
21* sensory organ development (GO:0007423)3.81381547
22protein homotrimerization (GO:0070207)3.67569802
23positive regulation of dendritic spine morphogenesis (GO:0061003)3.60739895
24lung epithelium development (GO:0060428)3.58019717
25regulation of Rac protein signal transduction (GO:0035020)3.36181384
26water transport (GO:0006833)3.35368915
27regulation of platelet aggregation (GO:0090330)3.26460213
28positive regulation of wound healing (GO:0090303)3.25230392
29positive regulation of calcium ion transport into cytosol (GO:0010524)3.08207545
30regulation of skeletal muscle fiber development (GO:0048742)3.05922981
31lens fiber cell development (GO:0070307)26.4503422
32lens fiber cell differentiation (GO:0070306)20.8949218
33intermediate filament cytoskeleton organization (GO:0045104)2.99172850
34fluid transport (GO:0042044)2.88231402
35intermediate filament-based process (GO:0045103)2.87485850
36cellular response to calcium ion (GO:0071277)2.84379424
37histone lysine demethylation (GO:0070076)2.69728154
38response to activity (GO:0014823)2.66069473
39dopaminergic neuron differentiation (GO:0071542)2.59882209
40negative regulation of platelet activation (GO:0010544)2.56836348
41respiratory tube development (GO:0030323)2.56577080
42mating behavior (GO:0007617)2.55419330
43cerebellar granule cell differentiation (GO:0021707)2.55410669
44lung-associated mesenchyme development (GO:0060484)2.52292685
45histone demethylation (GO:0016577)2.51656379
46skeletal muscle organ development (GO:0060538)2.49300731
47activation of JUN kinase activity (GO:0007257)2.48756907
48actomyosin structure organization (GO:0031032)2.46484886
49epithelial cell development (GO:0002064)2.45855482
50negative regulation of cell size (GO:0045792)2.38383790
51regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.34201995
52L-alpha-amino acid transmembrane transport (GO:1902475)2.32226685
53response to osmotic stress (GO:0006970)2.30240244
54regulation of myotube differentiation (GO:0010830)2.29719418
55regulation of release of sequestered calcium ion into cytosol (GO:0051279)2.28908007
56protein demethylation (GO:0006482)2.21905701
57protein dealkylation (GO:0008214)2.21905701
58diaphragm development (GO:0060539)2.21305683
59basement membrane organization (GO:0071711)2.19545452
60cell-cell junction assembly (GO:0007043)2.18847825
61protein localization to cell surface (GO:0034394)2.17421030
62collecting duct development (GO:0072044)2.13789274
63prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060522.13596489
64metanephric tubule development (GO:0072170)2.07697166
65metanephric nephron tubule development (GO:0072234)2.07697166
66positive regulation of dendritic spine development (GO:0060999)2.07384728
67positive regulation of dendrite morphogenesis (GO:0050775)2.06142450
68regulation of homotypic cell-cell adhesion (GO:0034110)2.01998328
69carnitine shuttle (GO:0006853)2.01248069
70dorsal/ventral axis specification (GO:0009950)2.00438100
71lens morphogenesis in camera-type eye (GO:0002089)10.6640356
72response to muscle activity (GO:0014850)10.1091893
73neuronal stem cell maintenance (GO:0097150)1.98001389
74protein trimerization (GO:0070206)1.96579308
75hypotonic response (GO:0006971)1.96002909
76negative regulation of hormone metabolic process (GO:0032351)1.94602487
77negative regulation of hormone biosynthetic process (GO:0032353)1.94602487
78apoptotic process involved in development (GO:1902742)1.93262526
79apoptotic process involved in morphogenesis (GO:0060561)1.92898345
80cytoskeletal anchoring at plasma membrane (GO:0007016)1.92836663
81negative regulation of potassium ion transmembrane transport (GO:1901380)1.91705826
82positive regulation of developmental growth (GO:0048639)1.89087989
83metanephric nephron epithelium development (GO:0072243)1.88467531
84cellular response to prostaglandin stimulus (GO:0071379)1.84131541
85fatty acid transmembrane transport (GO:1902001)1.79800593
86cell maturation (GO:0048469)1.78194278
87negative regulation of potassium ion transmembrane transporter activity (GO:1901017)1.78087798
88regulation of dendritic spine morphogenesis (GO:0061001)1.77034527
89cellular response to vitamin D (GO:0071305)1.76491384
90negative regulation of JUN kinase activity (GO:0043508)1.74930999
91anatomical structure regression (GO:0060033)1.73126845
92galactose catabolic process (GO:0019388)1.70578681
93regulation of skeletal muscle tissue development (GO:0048641)1.67760472
94bone trabecula formation (GO:0060346)1.65513559
95regulation of striated muscle cell differentiation (GO:0051153)1.64801464
96planar cell polarity pathway involved in neural tube closure (GO:0090179)1.63876298
97metanephric epithelium development (GO:0072207)1.62684564
98regulation of calcium ion transport into cytosol (GO:0010522)1.62547282
99regulation of wound healing (GO:0061041)1.62081649
100cartilage morphogenesis (GO:0060536)1.61756993

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse5.33957267
2ZNF652_21678463_ChIP-ChIP_ZR75-1_Human5.15091158
3CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.89397207
4IKZF1_21737484_ChIP-ChIP_HCT116_Human3.33343025
5PCGF2_27294783_Chip-Seq_NPCs_Mouse3.18483200
6EGR1_19032775_ChIP-ChIP_M12_Human3.08575102
7SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.61316699
8* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human2.17792955
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.02478331
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.02478331
11SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.00151023
12BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse10.2737405
13NANOG_16153702_ChIP-ChIP_HESCs_Human1.98485107
14EZH2_22144423_ChIP-Seq_EOC_Human1.94385802
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.91925156
16ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.87838622
17JARID2_20064375_ChIP-Seq_MESCs_Mouse1.85878778
18EGR1_19374776_ChIP-ChIP_THP-1_Human1.79139753
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.69581795
20EED_16625203_ChIP-ChIP_MESCs_Mouse1.66350922
21WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.62592448
22NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.60381757
23RNF2_27304074_Chip-Seq_ESCs_Mouse1.59939462
24CDX2_19796622_ChIP-Seq_MESCs_Mouse1.57020944
25SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.54622087
26TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.51349904
27* GATA3_24758297_ChIP-Seq_MCF-7_Human1.41964193
28EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.40780191
29GATA1_22025678_ChIP-Seq_K562_Human1.40186203
30MTF2_20144788_ChIP-Seq_MESCs_Mouse1.39754359
31CBX2_27304074_Chip-Seq_ESCs_Mouse1.36844183
32ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.36443670
33EP300_21415370_ChIP-Seq_HL-1_Mouse1.35767068
34JARID2_20075857_ChIP-Seq_MESCs_Mouse1.34592287
35JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.32988898
36TBX3_20139965_ChIP-Seq_MESCs_Mouse1.32595290
37TBX3_20139965_ChIP-Seq_ESCs_Mouse1.32261099
38ZFP281_18757296_ChIP-ChIP_E14_Mouse1.29678229
39* NFE2_27457419_Chip-Seq_LIVER_Mouse1.29430128
40JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28530458
41EZH2_27294783_Chip-Seq_ESCs_Mouse1.25756521
42TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.24976869
43TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.24294237
44EZH2_27304074_Chip-Seq_ESCs_Mouse1.23300703
45GATA1_19941827_ChIP-Seq_MEL86_Mouse1.22457540
46TP53_20018659_ChIP-ChIP_R1E_Mouse1.22127214
47LXR_22292898_ChIP-Seq_THP-1_Human1.21747279
48FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.18803176
49ZNF263_19887448_ChIP-Seq_K562_Human1.18133364
50* SOX2_22085726_ChIP-Seq_NPCs_Mouse1.17325026
51RING1B_27294783_Chip-Seq_NPCs_Mouse1.13657717
52PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.13593072
53CLOCK_20551151_ChIP-Seq_293T_Human1.12604603
54LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.12204566
55SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.11939531
56SMC3_22415368_ChIP-Seq_MEFs_Mouse1.09989768
57TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.08625694
58SALL4_18804426_ChIP-ChIP_XEN_Mouse1.06981957
59* CTCF_18555785_Chip-Seq_ESCs_Mouse1.05543169
60VDR_22108803_ChIP-Seq_LS180_Human1.04901767
61RING1B_27294783_Chip-Seq_ESCs_Mouse1.04304152
62* SUZ12_27294783_Chip-Seq_NPCs_Mouse1.04123636
63* CTCF_27219007_Chip-Seq_Bcells_Human1.03898103
64ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03640787
65NR3C1_23031785_ChIP-Seq_PC12_Mouse1.02678549
66TP63_17297297_ChIP-ChIP_HaCaT_Human1.01679172
67ELK3_25401928_ChIP-Seq_HUVEC_Human1.00926324
68* EZH2_27294783_Chip-Seq_NPCs_Mouse1.00316022
69* SMAD1_18555785_Chip-Seq_ESCs_Mouse1.00144054
70KDM2B_26808549_Chip-Seq_K562_Human0.99520710
71SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.97864594
72* RUNX1_27457419_Chip-Seq_LIVER_Mouse0.97122639
73PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.95366498
74SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.95057415
75KDM2B_26808549_Chip-Seq_SUP-B15_Human0.94995533
76SMAD3_21741376_ChIP-Seq_ESCs_Human0.94888557
77* FOXA2_19822575_ChIP-Seq_HepG2_Human0.93079324
78ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.92479940
79CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92173450
80ZNF274_21170338_ChIP-Seq_K562_Hela0.91228294
81SUZ12_27294783_Chip-Seq_ESCs_Mouse0.90959595
82OCT4_19829295_ChIP-Seq_ESCs_Human0.86478222
83HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.86128614
84MYC_18940864_ChIP-ChIP_HL60_Human0.85845132
85CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.83638979
86PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.83335517
87RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.81807195
88P53_22387025_ChIP-Seq_ESCs_Mouse0.81175781
89PPAR_26484153_Chip-Seq_NCI-H1993_Human0.80879997
90ESR2_21235772_ChIP-Seq_MCF-7_Human0.80654046
91* PU1_27457419_Chip-Seq_LIVER_Mouse0.80274901
92TCF7_22412390_ChIP-Seq_EML_Mouse0.79989481
93KDM2B_26808549_Chip-Seq_JURKAT_Human0.79497065
94RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.78052360
95CJUN_26792858_Chip-Seq_BT549_Human0.77056495
96EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.76895584
97PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.76659772
98WT1_19549856_ChIP-ChIP_CCG9911_Human0.76628416
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.76074600
100P53_22127205_ChIP-Seq_FIBROBLAST_Human0.75786986

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005193_abnormal_anterior_eye9.21283146
2MP0001286_abnormal_eye_development4.05323651
3MP0005197_abnormal_uvea_morphology3.97395548
4* MP0005253_abnormal_eye_physiology3.95067980
5MP0000749_muscle_degeneration3.89819499
6MP0003941_abnormal_skin_development3.48309868
7* MP0002092_abnormal_eye_morphology2.75743416
8* MP0005391_vision/eye_phenotype2.73610071
9MP0002090_abnormal_vision2.59352492
10MP0001346_abnormal_lacrimal_gland2.29756077
11* MP0002697_abnormal_eye_size13.9413333
12MP0002108_abnormal_muscle_morphology1.76509902
13MP0004272_abnormal_basement_membrane1.75229303
14MP0005330_cardiomyopathy1.67124637
15MP0002269_muscular_atrophy1.58572303
16MP0002638_abnormal_pupillary_reflex1.58375640
17MP0010368_abnormal_lymphatic_system1.40976925
18MP0005195_abnormal_posterior_eye1.31156503
19MP0003705_abnormal_hypodermis_morpholog1.13771444
20MP0002139_abnormal_hepatobiliary_system1.13514348
21MP0001299_abnormal_eye_distance/1.13170115
22MP0005551_abnormal_eye_electrophysiolog1.12244795
23MP0002735_abnormal_chemical_nociception1.10711545
24MP0001340_abnormal_eyelid_morphology0.91201516
25MP0005319_abnormal_enzyme/_coenzyme0.84911939
26MP0004087_abnormal_muscle_fiber0.84629727
27MP0003123_paternal_imprinting0.79387842
28MP0005369_muscle_phenotype0.70827784
29MP0004859_abnormal_synaptic_plasticity0.67366494
30MP0000049_abnormal_middle_ear0.64616422
31MP0000759_abnormal_skeletal_muscle0.64556151
32MP0000537_abnormal_urethra_morphology0.64137487
33MP0009053_abnormal_anal_canal0.63484765
34MP0003252_abnormal_bile_duct0.59191285
35MP0005085_abnormal_gallbladder_physiolo0.57672401
36MP0002736_abnormal_nociception_after0.55652737
37MP0005187_abnormal_penis_morphology0.55337628
38MP0006292_abnormal_olfactory_placode0.54126292
39MP0001905_abnormal_dopamine_level0.51319545
40MP0000751_myopathy0.51173514
41MP0009780_abnormal_chondrocyte_physiolo0.50580597
42MP0002653_abnormal_ependyma_morphology0.48989441
43MP0002734_abnormal_mechanical_nocicepti0.48217373
44MP0003566_abnormal_cell_adhesion0.46921332
45MP0004885_abnormal_endolymph0.46647953
46MP0001915_intracranial_hemorrhage0.46539784
47MP0001968_abnormal_touch/_nociception0.45834786
48MP0000747_muscle_weakness0.44713773
49MP0001879_abnormal_lymphatic_vessel0.42958659
50MP0002089_abnormal_postnatal_growth/wei0.42361122
51MP0002249_abnormal_larynx_morphology0.41691043
52MP0005360_urolithiasis0.41471407
53MP0001324_abnormal_eye_pigmentation0.41365773
54MP0003942_abnormal_urinary_system0.40270236
55MP0005248_abnormal_Harderian_gland0.40040467
56MP0003635_abnormal_synaptic_transmissio0.39140518
57MP0003329_amyloid_beta_deposits0.38582777
58MP0008438_abnormal_cutaneous_collagen0.38353017
59MP0003787_abnormal_imprinting0.37929410
60MP0005257_abnormal_intraocular_pressure0.37862642
61MP0001958_emphysema0.37833632
62MP0003115_abnormal_respiratory_system0.37578402
63MP0000428_abnormal_craniofacial_morphol0.37266849
64MP0003656_abnormal_erythrocyte_physiolo0.36592044
65MP0010234_abnormal_vibrissa_follicle0.33535876
66MP0002177_abnormal_outer_ear0.33443799
67MP0001943_abnormal_respiration0.31764603
68MP0004197_abnormal_fetal_growth/weight/0.30561137
69MP0002925_abnormal_cardiovascular_devel0.30492427
70MP0009250_abnormal_appendicular_skeleto0.30047576
71MP0002837_dystrophic_cardiac_calcinosis0.29638300
72MP0004134_abnormal_chest_morphology0.28322049
73MP0004084_abnormal_cardiac_muscle0.28276687
74MP0004185_abnormal_adipocyte_glucose0.28152798
75MP0004858_abnormal_nervous_system0.27532721
76MP0004270_analgesia0.27488181
77MP0004036_abnormal_muscle_relaxation0.27401924
78MP0002295_abnormal_pulmonary_circulatio0.27117494
79MP0003959_abnormal_lean_body0.27071162
80MP0004811_abnormal_neuron_physiology0.27058149
81MP0002733_abnormal_thermal_nociception0.27026039
82MP0002063_abnormal_learning/memory/cond0.26743782
83MP0005623_abnormal_meninges_morphology0.26458687
84MP0005647_abnormal_sex_gland0.26172332
85MP0003011_delayed_dark_adaptation0.26032325
86MP0001614_abnormal_blood_vessel0.25084392
87MP0000955_abnormal_spinal_cord0.23689493
88MP0002106_abnormal_muscle_physiology0.23679496
89MP0002152_abnormal_brain_morphology0.23411293
90MP0001784_abnormal_fluid_regulation0.23395110
91MP0004130_abnormal_muscle_cell0.20809862
92MP0000266_abnormal_heart_morphology0.20116154
93MP0004233_abnormal_muscle_weight0.19599114
94MP0002128_abnormal_blood_circulation0.19198129
95MP0004145_abnormal_muscle_electrophysio0.19140812
96MP0001765_abnormal_ion_homeostasis0.17930125
97MP0010329_abnormal_lipoprotein_level0.17681426
98MP0002064_seizures0.17132878
99MP0003119_abnormal_digestive_system0.16649392
100MP0006072_abnormal_retinal_apoptosis0.15893316

Predicted human phenotypes

RankGene SetZ-score
1* Congenital cataract (HP:0000519)7.58128154
2* Corneal dystrophy (HP:0001131)6.74167646
3Anterior segment dysgenesis (HP:0007700)6.47223954
4Polar cataract (HP:0010696)4.84244487
5Clumsiness (HP:0002312)4.27415119
6* Amblyopia (HP:0000646)4.17373193
7* Microcornea (HP:0000482)3.42214052
8Eosinophilia (HP:0001880)3.06629558
9* Nuclear cataract (HP:0100018)26.7788458
10* Zonular cataract (HP:0010920)25.0405523
11Abnormality of the anterior chamber (HP:0000593)2.74461932
12* Iris coloboma (HP:0000612)2.67548290
13Sclerocornea (HP:0000647)2.51296514
14* Opacification of the corneal stroma (HP:0007759)2.45977925
15Granulocytopenia (HP:0001913)2.44047783
16Scapular winging (HP:0003691)2.36978463
17Proximal amyotrophy (HP:0007126)2.28985298
18Congenital primary aphakia (HP:0007707)2.25374806
19Posterior subcapsular cataract (HP:0007787)2.16027070
20Abnormality of eosinophils (HP:0001879)2.07453260
21Aplasia/Hypoplasia of the lens (HP:0008063)1.93207976
22Aplasia/Hypoplasia of the macula (HP:0008059)1.77185926
23Neonatal respiratory distress (HP:0002643)1.76003990
24Aplasia/Hypoplasia affecting the retina (HP:0008061)1.69053222
25Fetal akinesia sequence (HP:0001989)1.67038010
26Long clavicles (HP:0000890)1.66273888
27Popliteal pterygium (HP:0009756)1.60780655
28Aplasia of the musculature (HP:0100854)1.57574668
29Abnormality of placental membranes (HP:0011409)1.43370557
30Amniotic constriction ring (HP:0009775)1.43370557
31Abnormality of the shoulder girdle musculature (HP:0001435)1.43028691
32Akinesia (HP:0002304)1.41889942
33Hypoplastic nipples (HP:0002557)1.41718840
34Difficulty walking (HP:0002355)1.41510185
35Leukocytosis (HP:0001974)1.35181709
36Fused cervical vertebrae (HP:0002949)1.21991527
37Rib fusion (HP:0000902)1.21267164
38Subcapsular cataract (HP:0000523)1.20025118
39Symphalangism affecting the phalanges of the hand (HP:0009773)1.19576760
40Papilledema (HP:0001085)1.17845094
41Vertebral clefting (HP:0008428)1.07978403
42Abnormality of the labia majora (HP:0012881)1.03978364
43Aplasia/Hypoplasia involving the musculature (HP:0001460)0.91218409
44Severe visual impairment (HP:0001141)0.90454279
45Neoplasm of the heart (HP:0100544)0.89804643
46Exostoses (HP:0100777)0.88282059
47Chorioretinal coloboma (HP:0000567)0.87800667
48Pterygium (HP:0001059)0.82225544
49Camptodactyly of toe (HP:0001836)0.81524539
50Lymphangioma (HP:0100764)0.80758252
51Ependymoma (HP:0002888)0.76846154
52Malignant hyperthermia (HP:0002047)0.76450689
53Thin ribs (HP:0000883)0.75423887
54Abnormal number of incisors (HP:0011064)0.71178348
55Hypoplastic heart (HP:0001961)0.71009635
56Overgrowth (HP:0001548)0.67135757
57Muscle fiber splitting (HP:0003555)0.63365653
58Aplasia/Hypoplasia of the nipples (HP:0006709)0.62986612
59Dislocated radial head (HP:0003083)0.61442018
60Hyporeflexia of lower limbs (HP:0002600)0.60472284
61Cystic hygroma (HP:0000476)0.59602569
62Diminished movement (HP:0002374)0.59557158
63Abnormality of the humeroradial joint (HP:0100744)0.58817713
64Increased density of long bones (HP:0006392)0.58497522
65Pointed chin (HP:0000307)0.57257461
66Abnormality of the astrocytes (HP:0100707)0.56847027
67Astrocytoma (HP:0009592)0.56847027
68Abnormality of the radial head (HP:0003995)0.56592135
69Flexion contracture of toe (HP:0005830)0.55479411
70Joint contractures involving the joints of the feet (HP:0100492)0.55479411
71Hepatoblastoma (HP:0002884)0.55377035
72Split foot (HP:0001839)0.55236870
73Visceral angiomatosis (HP:0100761)0.54468206
74Enlarged kidneys (HP:0000105)0.54187680
75Hamartoma of the eye (HP:0010568)0.52335137
76Skin nodule (HP:0200036)0.52218809
77Hemiplegia (HP:0002301)0.52145505
78* Autosomal dominant inheritance (HP:0000006)0.51418569
79Broad ribs (HP:0000885)0.50604464
80Hypoplastic pelvis (HP:0008839)0.50373023
81Abnormality of cochlea (HP:0000375)0.50185506
82Annular pancreas (HP:0001734)0.49916373
83Buphthalmos (HP:0000557)0.49901150
84Elevated circulating parathyroid hormone (PTH) level (HP:0003165)0.49565480
85Hemangiomatosis (HP:0007461)0.49331869
86Broad nasal tip (HP:0000455)0.48590643
87Chorioretinal atrophy (HP:0000533)0.48450833
88Neonatal hypoglycemia (HP:0001998)0.47276053
89Patellar aplasia (HP:0006443)0.47268106
90Abnormality of the labia (HP:0000058)0.46754885
91Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.46453257
92Hypopigmentation of the fundus (HP:0007894)0.43481788
93Exercise-induced muscle cramps (HP:0003710)0.42855011
94Humeroradial synostosis (HP:0003041)0.42729121
95Synostosis involving the elbow (HP:0003938)0.42729121
96Angiofibromas (HP:0010615)0.42695779
97Adenoma sebaceum (HP:0009720)0.42695779
98Exercise-induced myalgia (HP:0003738)0.42162197
99Aplasia/Hypoplasia of the patella (HP:0006498)0.41454600
100Hyperthyroidism (HP:0000836)0.41246842

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP2K68.17062093
2BLK4.77934245
3SGK14.18794875
4STK393.01128271
5WNK42.89696946
6NTRK12.75043451
7MST42.70304472
8FLT32.68137324
9PRKG12.60987714
10SIK12.41250029
11PKN22.30476692
12TRIB32.24824708
13PDGFRA1.78523410
14MET1.73956963
15IGF1R1.67204043
16PRKCB1.65828866
17LRRK21.65735759
18MAPK101.47560199
19PNCK1.44856193
20EPHB21.38743659
21MYLK1.32131776
22MAP3K101.32036526
23PRKACB1.24868107
24ICK1.21786410
25ERBB21.20549001
26WNK11.15526691
27CDK61.14660903
28ZAP701.13888968
29RPS6KA31.07916014
30PTK61.06930213
31SCYL21.04925958
32STK101.03675139
33PAK41.03193102
34EPHA40.98020558
35TTN0.92906805
36ROCK20.90622085
37PAK60.84974707
38PTK20.82680607
39ILK0.82147660
40PAK20.82143661
41CAMK1G0.81571962
42PRKCQ0.81319100
43DMPK0.80859964
44PRKACG0.78623516
45PKN10.77420168
46PHKG20.76804592
47PHKG10.76804592
48CAMKK10.73061995
49PAK30.72429033
50ROCK10.70581601
51LATS10.70525550
52CSF1R0.68428465
53SGK2230.63739102
54SGK4940.63739102
55LATS20.60024922
56RPS6KA20.57645442
57EPHA20.56125408
58MINK10.53696512
59FGFR10.50103896
60MAPKAPK50.49715645
61CSNK2A20.44874703
62UHMK10.40077458
63ALK0.39606569
64CDK50.39288962
65EGFR0.38393617
66PRKCH0.36684264
67PIK3CG0.36550033
68ADRBK10.34019317
69RPS6KA10.32925290
70PDGFRB0.32706054
71FER0.32541586
72HIPK20.31647646
73PTK2B0.31394359
74CSNK1E0.29377399
75* INSR0.27962231
76RPS6KC10.27877386
77RPS6KL10.27877386
78MAPKAPK20.27489589
79FYN0.27254230
80IRAK20.26933617
81GSK3A0.26600474
82FGFR20.26243639
83KSR10.26211665
84NEK90.26044671
85RIPK10.24664926
86NTRK30.23155871
87PRKCA0.23037812
88LIMK10.22934938
89MKNK10.21100716
90MAP3K80.20114546
91CDK140.19649625
92JAK30.19445983
93MARK10.19402316
94KSR20.18468588
95BMX0.17900914
96SRC0.17150596
97DDR20.17039808
98AKT20.16921466
99NEK10.16798813
100PRKACA0.16465912

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009102.43185013
2Small cell lung cancer_Homo sapiens_hsa052222.41904582
3Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.26599567
4Central carbon metabolism in cancer_Homo sapiens_hsa052301.91237508
5Hedgehog signaling pathway_Homo sapiens_hsa043401.85474586
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.79118347
7Basal cell carcinoma_Homo sapiens_hsa052171.77135150
8Adherens junction_Homo sapiens_hsa045201.68959443
9Primary bile acid biosynthesis_Homo sapiens_hsa001201.65535494
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.63371459
11mTOR signaling pathway_Homo sapiens_hsa041501.56022868
12Melanogenesis_Homo sapiens_hsa049161.55100099
13Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.52523322
14ECM-receptor interaction_Homo sapiens_hsa045121.50459886
15Arginine biosynthesis_Homo sapiens_hsa002201.49951199
16Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.46248860
17Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.46009138
18Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43257317
19Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.42441794
20Phototransduction_Homo sapiens_hsa047441.39567114
21Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.28682834
22Proteoglycans in cancer_Homo sapiens_hsa052051.28540917
23Circadian entrainment_Homo sapiens_hsa047131.27995655
24Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.27572192
25Synaptic vesicle cycle_Homo sapiens_hsa047211.26979562
26Bile secretion_Homo sapiens_hsa049761.25731661
27Wnt signaling pathway_Homo sapiens_hsa043101.23785738
28Insulin signaling pathway_Homo sapiens_hsa049101.23552679
29GABAergic synapse_Homo sapiens_hsa047271.23197625
30Olfactory transduction_Homo sapiens_hsa047401.22678604
31Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.20767500
32Amoebiasis_Homo sapiens_hsa051461.20601442
33Fatty acid degradation_Homo sapiens_hsa000711.19193070
34Focal adhesion_Homo sapiens_hsa045101.18214329
35Glioma_Homo sapiens_hsa052141.15634249
36Protein digestion and absorption_Homo sapiens_hsa049741.13077107
37Biosynthesis of amino acids_Homo sapiens_hsa012301.12470082
38Tight junction_Homo sapiens_hsa045301.09540814
39Glucagon signaling pathway_Homo sapiens_hsa049221.07087241
40Long-term potentiation_Homo sapiens_hsa047201.01970428
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.01915381
42Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.98661674
43Gastric acid secretion_Homo sapiens_hsa049710.97618826
44Adipocytokine signaling pathway_Homo sapiens_hsa049200.96173653
45Longevity regulating pathway - mammal_Homo sapiens_hsa042110.94370801
46Dorso-ventral axis formation_Homo sapiens_hsa043200.93825647
472-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.93700480
48Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.92968621
49Hippo signaling pathway_Homo sapiens_hsa043900.90773197
50Fatty acid metabolism_Homo sapiens_hsa012120.90197771
51Type II diabetes mellitus_Homo sapiens_hsa049300.86225065
52Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.85972292
53Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.85524683
54Oxytocin signaling pathway_Homo sapiens_hsa049210.83461745
55Prion diseases_Homo sapiens_hsa050200.82794365
56Axon guidance_Homo sapiens_hsa043600.82623349
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.82103383
58Cholinergic synapse_Homo sapiens_hsa047250.81660981
59Sulfur metabolism_Homo sapiens_hsa009200.81409920
60Gap junction_Homo sapiens_hsa045400.81124773
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.81064293
62Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.79786802
63Renal cell carcinoma_Homo sapiens_hsa052110.79023278
64PPAR signaling pathway_Homo sapiens_hsa033200.78899577
65AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.78840087
66Thyroid hormone signaling pathway_Homo sapiens_hsa049190.78625485
67Pathways in cancer_Homo sapiens_hsa052000.78262060
68Insulin resistance_Homo sapiens_hsa049310.77882881
69Glutamatergic synapse_Homo sapiens_hsa047240.73632938
70Dopaminergic synapse_Homo sapiens_hsa047280.73568541
71Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.73491011
72Dilated cardiomyopathy_Homo sapiens_hsa054140.73267119
73Insulin secretion_Homo sapiens_hsa049110.73265758
74Carbon metabolism_Homo sapiens_hsa012000.71415221
75Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.70728455
76AMPK signaling pathway_Homo sapiens_hsa041520.70536752
77Estrogen signaling pathway_Homo sapiens_hsa049150.68291858
78Arginine and proline metabolism_Homo sapiens_hsa003300.66931391
79Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.66552909
80Vibrio cholerae infection_Homo sapiens_hsa051100.64270006
81Butanoate metabolism_Homo sapiens_hsa006500.63655155
82cGMP-PKG signaling pathway_Homo sapiens_hsa040220.62004916
83Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.60269896
84Complement and coagulation cascades_Homo sapiens_hsa046100.59102410
85Chronic myeloid leukemia_Homo sapiens_hsa052200.58862567
86Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.58579315
87Tryptophan metabolism_Homo sapiens_hsa003800.57492574
88Vascular smooth muscle contraction_Homo sapiens_hsa042700.55455655
89Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.55370655
90ErbB signaling pathway_Homo sapiens_hsa040120.54260118
91Thyroid cancer_Homo sapiens_hsa052160.52839266
92Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.52485404
93Renin secretion_Homo sapiens_hsa049240.52141898
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.51987715
95Glycerolipid metabolism_Homo sapiens_hsa005610.51830042
96Rap1 signaling pathway_Homo sapiens_hsa040150.51733735
97MicroRNAs in cancer_Homo sapiens_hsa052060.51320973
98Long-term depression_Homo sapiens_hsa047300.49836242
99Starch and sucrose metabolism_Homo sapiens_hsa005000.48955305
100Toxoplasmosis_Homo sapiens_hsa051450.48563180

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