GUCA1B

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: The protein encoded by this gene is a calcium-binding protein that activates photoreceptor guanylate cyclases. This gene may have arisen due to a gene duplication event since there is a highly similar gene clustered with it on chromosome 6. Mutations in this gene can cause a form of retinitis pigmentosa. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* detection of visible light (GO:0009584)9.81405406
2* visual perception (GO:0007601)8.60221542
3* sensory perception of light stimulus (GO:0050953)8.50327374
4retinal rod cell development (GO:0046548)8.42887571
5eye photoreceptor cell differentiation (GO:0001754)8.05660886
6photoreceptor cell differentiation (GO:0046530)8.05660886
7protein-chromophore linkage (GO:0018298)7.59126698
8* cellular response to light stimulus (GO:0071482)7.57037692
9* positive regulation of guanylate cyclase activity (GO:0031284)7.47625443
10* detection of external stimulus (GO:0009581)7.02046890
11retina development in camera-type eye (GO:0060041)6.89635468
12* detection of abiotic stimulus (GO:0009582)6.88986152
13* regulation of guanylate cyclase activity (GO:0031282)6.66866247
14cell morphogenesis involved in neuron differentiation (GO:0048667)6.37504425
15positive regulation of synaptic transmission, dopaminergic (GO:0032226)5.83884593
16detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)5.81410983
17* regulation of cGMP metabolic process (GO:0030823)5.49037750
18nonmotile primary cilium assembly (GO:0035058)5.40837779
19positive regulation of protein homooligomerization (GO:0032464)5.35183742
20regulation of inhibitory postsynaptic membrane potential (GO:0060080)5.31040807
21negative regulation of erythrocyte differentiation (GO:0045647)5.24418304
22regulation of voltage-gated calcium channel activity (GO:1901385)4.96567137
23* cellular response to radiation (GO:0071478)4.89445301
24short-term memory (GO:0007614)4.67195236
25prenylation (GO:0097354)4.65020334
26protein prenylation (GO:0018342)4.65020334
27regulation of penile erection (GO:0060405)4.61193887
28regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)4.48521599
29regulation of dopamine uptake involved in synaptic transmission (GO:0051584)4.48521599
30* regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)4.47011877
31regulation of interferon-beta biosynthetic process (GO:0045357)4.46808959
32retina homeostasis (GO:0001895)4.43991966
33positive regulation of sodium ion transmembrane transporter activity (GO:2000651)4.38948018
34adaptation of signaling pathway (GO:0023058)4.24285267
35* positive regulation of cGMP biosynthetic process (GO:0030828)4.19794212
36behavioral response to ethanol (GO:0048149)4.16938967
37chemosensory behavior (GO:0007635)4.06015041
38response to histamine (GO:0034776)4.03595559
39* sensory perception (GO:0007600)4.02429481
40positive regulation by organism of defense response of other organism involved in symbiotic interact4.01208614
41modulation by symbiont of host immune response (GO:0052553)4.01208614
42positive regulation by symbiont of host defense response (GO:0052509)4.01208614
43modulation by symbiont of host defense response (GO:0052031)4.01208614
44modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.01208614
45modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.01208614
46positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.99234789
47negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.99012040
48* regulation of cGMP biosynthetic process (GO:0030826)3.91572993
49* response to light stimulus (GO:0009416)3.84762418
50cellular response to virus (GO:0098586)3.82678367
51neuron development (GO:0048666)3.73948854
52regulation of histone H3-K27 methylation (GO:0061085)3.72599525
53tachykinin receptor signaling pathway (GO:0007217)3.71174927
54positive regulation of gamma-delta T cell activation (GO:0046645)3.69987109
55positive regulation of sodium ion transmembrane transport (GO:1902307)3.69576102
56* positive regulation of cGMP metabolic process (GO:0030825)3.64873269
57regulation of protein homooligomerization (GO:0032462)3.63348608
58negative regulation of receptor-mediated endocytosis (GO:0048261)3.62940833
59positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.60031638
60negative regulation of necroptotic process (GO:0060546)3.59837893
61macrophage activation involved in immune response (GO:0002281)3.59252450
62positive T cell selection (GO:0043368)3.52724033
63positive regulation of B cell differentiation (GO:0045579)3.48863976
64positive thymic T cell selection (GO:0045059)3.44029613
65B cell homeostasis (GO:0001782)3.42796210
66positive regulation of release of cytochrome c from mitochondria (GO:0090200)3.42581329
67protein localization to synapse (GO:0035418)3.40912190
68protein heterotetramerization (GO:0051290)3.40530345
69histone H3 deacetylation (GO:0070932)3.40268713
703-UTR-mediated mRNA stabilization (GO:0070935)3.39082260
71icosanoid secretion (GO:0032309)3.36466812
72arachidonic acid secretion (GO:0050482)3.36466812
73detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.35900811
74positive regulation of neurotransmitter transport (GO:0051590)3.35199238
75behavioral response to cocaine (GO:0048148)3.34653339
76regulation of clathrin-mediated endocytosis (GO:2000369)3.32689038
77synaptic transmission, dopaminergic (GO:0001963)3.32256248
78nuclear pore complex assembly (GO:0051292)3.28161107
79regulation of double-strand break repair via homologous recombination (GO:0010569)3.26305621
80negative regulation of cation channel activity (GO:2001258)3.24491697
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.22026811
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.22026811
83B cell receptor signaling pathway (GO:0050853)3.20558967
84retina layer formation (GO:0010842)3.18882364
85negative regulation of cell killing (GO:0031342)3.18258942
86negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.18258942
87regulation of necroptotic process (GO:0060544)3.16135598
88regulation of neurotransmitter uptake (GO:0051580)3.08622190
89regulation of mast cell degranulation (GO:0043304)3.08399128
90detection of chemical stimulus involved in sensory perception (GO:0050907)3.07691813
91membrane tubulation (GO:0097320)3.02764322
92dopamine receptor signaling pathway (GO:0007212)3.01847520
93dosage compensation (GO:0007549)3.01486766
94T cell selection (GO:0045058)3.00691187
95membrane hyperpolarization (GO:0060081)3.00289512
96histone H4 deacetylation (GO:0070933)2.99841728
97positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.99423282
98mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.96959504
99positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.96959504
100regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.96895414
101modulation by virus of host process (GO:0019054)2.96703853
102positive regulation of receptor biosynthetic process (GO:0010870)2.94661782
103positive regulation of insulin receptor signaling pathway (GO:0046628)2.92778809
104regulation of germinal center formation (GO:0002634)2.92594978
105protein insertion into membrane (GO:0051205)2.91784914
106positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)2.91281187
107layer formation in cerebral cortex (GO:0021819)2.90843883
108positive regulation of interferon-alpha production (GO:0032727)2.89986646
109retinol metabolic process (GO:0042572)2.89857963
110regulation of dopamine metabolic process (GO:0042053)2.87963804
111regulation of catecholamine metabolic process (GO:0042069)2.87963804
112thymic T cell selection (GO:0045061)2.87275197
113neutrophil activation involved in immune response (GO:0002283)2.84862136
114positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.82126762
115erythrocyte development (GO:0048821)2.79019741
116mitochondrial fusion (GO:0008053)2.77853403
117positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)2.76867300
118estrogen biosynthetic process (GO:0006703)2.76207457
119response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.75579533
120response to host immune response (GO:0052572)2.75579533
121sensory perception of smell (GO:0007608)2.74989387
122antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.74797155
123leukocyte aggregation (GO:0070486)2.74509974
124icosanoid transport (GO:0071715)2.73485952
125fatty acid derivative transport (GO:1901571)2.73485952
126regulation of mast cell activation involved in immune response (GO:0033006)2.71864871
127response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.71680012
128response to host (GO:0075136)2.71680012
129response to host defenses (GO:0052200)2.71680012
130regulation of T-helper 2 cell differentiation (GO:0045628)2.71399478
131regulation of interferon-alpha production (GO:0032647)2.70694966
132positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.70346036
133regulation of type I interferon-mediated signaling pathway (GO:0060338)2.69941789
134negative regulation of transcription regulatory region DNA binding (GO:2000678)2.69881246
135modulation by symbiont of host cellular process (GO:0044068)2.69861104
136* response to radiation (GO:0009314)2.69440137
137positive regulation of protein oligomerization (GO:0032461)2.69149742
138CDP-diacylglycerol biosynthetic process (GO:0016024)2.68362518
139negative regulation of toll-like receptor signaling pathway (GO:0034122)2.67668450
140regulation of B cell differentiation (GO:0045577)2.67443521
141negative regulation of necrotic cell death (GO:0060547)2.66172519
142activated T cell proliferation (GO:0050798)2.65954221
143head development (GO:0060322)2.65518063
144response to muramyl dipeptide (GO:0032495)2.65286591
145negative regulation of telomere maintenance (GO:0032205)2.64735551
146negative regulation of histone methylation (GO:0031061)2.64541025
147synaptic vesicle endocytosis (GO:0048488)2.64363024
148negative regulation of T-helper cell differentiation (GO:0045623)2.63725260
149negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.63725260
150establishment of mitochondrion localization (GO:0051654)2.61766522
151positive regulation of membrane potential (GO:0045838)2.61282132
152antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.60244579
153positive regulation of ERBB signaling pathway (GO:1901186)2.58661637
154germinal center formation (GO:0002467)2.58376287
155retinoid metabolic process (GO:0001523)2.57910664
156positive regulation of T cell cytokine production (GO:0002726)2.57352059
157intracellular estrogen receptor signaling pathway (GO:0030520)2.56957640
158negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.56941488
159retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.56597121
160regulation of leukocyte degranulation (GO:0043300)2.55886074
161peptidyl-arginine methylation (GO:0018216)2.54753969
162peptidyl-arginine N-methylation (GO:0035246)2.54753969
163regulation of gamma-delta T cell activation (GO:0046643)2.54429439
164sensory perception of chemical stimulus (GO:0007606)2.54020569
165regulation of myeloid leukocyte mediated immunity (GO:0002886)2.53974721
166cellular response to interleukin-4 (GO:0071353)2.53432263
167regulation of B cell receptor signaling pathway (GO:0050855)2.52861419
168striatum development (GO:0021756)2.52494667
169tolerance induction (GO:0002507)2.52397634
170regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway 2.51391827
171positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling2.51391827
172neutrophil activation (GO:0042119)2.51375920
173melanosome transport (GO:0032402)2.51328799
174positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.50922144
175negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.50901463
176antigen processing and presentation of endogenous antigen (GO:0019883)2.50429789
177mitochondrial calcium ion transport (GO:0006851)2.49786102
178CDP-diacylglycerol metabolic process (GO:0046341)2.49285425
179regulation of gamma-delta T cell differentiation (GO:0045586)2.48571940
180lipid translocation (GO:0034204)2.47836829
181phospholipid translocation (GO:0045332)2.47836829
182regulation of synaptic transmission, dopaminergic (GO:0032225)2.46728290
183cellular response to electrical stimulus (GO:0071257)2.45627380
184* cellular response to abiotic stimulus (GO:0071214)2.44070286
185sensory perception of taste (GO:0050909)2.41288816
186establishment of melanosome localization (GO:0032401)2.41247703
187diterpenoid metabolic process (GO:0016101)2.37662402
188cellular response to leptin stimulus (GO:0044320)2.37473984
189* regulation of rhodopsin mediated signaling pathway (GO:0022400)19.3284768
190* rhodopsin mediated signaling pathway (GO:0016056)18.6937649
191retinal cone cell development (GO:0046549)15.9822737
192photoreceptor cell development (GO:0042461)12.8049353
193eye photoreceptor cell development (GO:0042462)12.3320268
194photoreceptor cell maintenance (GO:0045494)12.0504422
195detection of light stimulus involved in sensory perception (GO:0050962)11.4741104
196detection of light stimulus involved in visual perception (GO:0050908)11.4741104
197GMP metabolic process (GO:0046037)11.2134093
198* phototransduction (GO:0007602)10.6078735
199* phototransduction, visible light (GO:0007603)10.2675153
200* detection of light stimulus (GO:0009583)10.1231846

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse6.10014980
2VDR_22108803_ChIP-Seq_LS180_Human4.86735239
3CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse4.62482634
4GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse4.06040230
5THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse3.51632549
6EGR1_19374776_ChIP-ChIP_THP-1_Human3.47553796
7MYC_22102868_ChIP-Seq_BL_Human3.46771605
8DMRT1_21621532_ChIP-ChIP_FETAL_Ovary3.26325879
9VDR_21846776_ChIP-Seq_THP-1_Human2.98754157
10NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.76953684
11TCF7_22412390_ChIP-Seq_EML_Mouse2.52007910
12KDM2B_26808549_Chip-Seq_DND41_Human2.41447394
13KDM2B_26808549_Chip-Seq_SUP-B15_Human2.31714969
14DROSHA_22980978_ChIP-Seq_HELA_Human2.28272617
15MAF_26560356_Chip-Seq_TH1_Human2.22974271
16MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.22459229
17KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.15998752
18UTX_26944678_Chip-Seq_JUKART_Human2.13176996
19TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.11451963
20LXR_22292898_ChIP-Seq_THP-1_Human2.04532239
21E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.03933767
22ELF1_20517297_ChIP-Seq_JURKAT_Human1.98312012
23MAF_26560356_Chip-Seq_TH2_Human1.98135185
24BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.98006598
25E2F7_22180533_ChIP-Seq_HELA_Human1.93464996
26STAT6_21828071_ChIP-Seq_BEAS2B_Human1.91027851
27KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.87041892
28BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.86288075
29CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.86090644
30SPI1_23127762_ChIP-Seq_K562_Human1.83650247
31GBX2_23144817_ChIP-Seq_PC3_Human1.82976098
32* NCOR1_26117541_ChIP-Seq_K562_Human1.81251206
33MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.80735477
34STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.76891481
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.75344218
36RUNX1_22412390_ChIP-Seq_EML_Mouse1.72104619
37SMAD3_21741376_ChIP-Seq_HESCs_Human1.71267076
38ELK3_25401928_ChIP-Seq_HUVEC_Human1.70071417
39CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.68306820
40* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.67723729
41MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.66506846
42IRF8_22096565_ChIP-ChIP_GC-B_Human1.66467875
43IKZF1_21737484_ChIP-ChIP_HCT116_Human1.66396900
44SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.63458170
45SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.62877644
46TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.61902810
47SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.60230153
48ZFP281_18757296_ChIP-ChIP_E14_Mouse1.59611306
49RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.59380149
50SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.58231762
51SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.56333276
52EZH2_27294783_Chip-Seq_ESCs_Mouse1.55336685
53ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.55098299
54VDR_24763502_ChIP-Seq_THP-1_Human1.54778993
55TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.53539008
56SUZ12_27294783_Chip-Seq_ESCs_Mouse1.53047926
57KDM2B_26808549_Chip-Seq_JURKAT_Human1.51323624
58POU3F2_20337985_ChIP-ChIP_501MEL_Human1.50859801
59NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.49171673
60CTCF_27219007_Chip-Seq_ERYTHROID_Human1.47325339
61ELF1_17652178_ChIP-ChIP_JURKAT_Human1.47077032
62REST_18959480_ChIP-ChIP_MESCs_Mouse1.46531922
63ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.46279265
64EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.46107330
65AR_21572438_ChIP-Seq_LNCaP_Human1.45819276
66TCF4_18268006_ChIP-ChIP_LS174T_Human1.45641656
67SMC4_20622854_ChIP-Seq_HELA_Human1.45380162
68* GATA1_19941826_ChIP-Seq_K562_Human1.43790488
69MYB_26560356_Chip-Seq_TH1_Human1.43574645
70IGF1R_20145208_ChIP-Seq_DFB_Human1.41686503
71KDM2B_26808549_Chip-Seq_K562_Human1.41444114
72ELK4_26923725_Chip-Seq_MESODERM_Mouse1.41296053
73FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.40791885
74SRY_22984422_ChIP-ChIP_TESTIS_Rat1.40636180
75SPI1_23547873_ChIP-Seq_NB4_Human1.40603209
76CIITA_25753668_ChIP-Seq_RAJI_Human1.40406973
77TAF2_19829295_ChIP-Seq_ESCs_Human1.39727944
78NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.39346547
79CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39143377
80BCOR_27268052_Chip-Seq_Bcells_Human1.37572939
81AR_19668381_ChIP-Seq_PC3_Human1.37087801
82NCOR_22424771_ChIP-Seq_293T_Human1.34811831
83GATA1_22383799_ChIP-Seq_G1ME_Mouse1.32635628
84REST_21632747_ChIP-Seq_MESCs_Mouse1.31788572
85SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.29034947
86BRD4_27068464_Chip-Seq_AML-cells_Mouse1.26951221
87FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.26773354
88GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.26640321
89RARG_19884340_ChIP-ChIP_MEFs_Mouse1.26218249
90RING1B_27294783_Chip-Seq_NPCs_Mouse1.26026908
91ERG_20517297_ChIP-Seq_VCAP_Human1.25710321
92PHF8_20622854_ChIP-Seq_HELA_Human1.25097394
93CTCF_27219007_Chip-Seq_Bcells_Human1.24844750
94MTF2_20144788_ChIP-Seq_MESCs_Mouse1.24684448
95RACK7_27058665_Chip-Seq_MCF-7_Human1.23898713
96EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.23348993
97BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.22900386
98MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.22508151
99MYB_26560356_Chip-Seq_TH2_Human1.21498461
100* CTCF_20526341_ChIP-Seq_ESCs_Human1.20710954
101EP300_21415370_ChIP-Seq_HL-1_Mouse1.19885687
102GATA2_21666600_ChIP-Seq_HMVEC_Human1.19549418
103ERG_21242973_ChIP-ChIP_JURKAT_Human1.19123585
104DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.18327617
105P53_22127205_ChIP-Seq_FIBROBLAST_Human1.18296513
106PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.18241761
107CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.17184844
108MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.16690224
109MYB_21317192_ChIP-Seq_ERMYB_Mouse1.15839313
110PRDM14_20953172_ChIP-Seq_ESCs_Human1.15723535
111TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.14540201
112RARB_27405468_Chip-Seq_BRAIN_Mouse1.14413211
113SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.12658319
114STAT4_19710469_ChIP-ChIP_TH1__Mouse1.12339357
115PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.11827451
116CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.11817632
117ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.11793085
118KLF4_18555785_ChIP-Seq_MESCs_Mouse1.11514481
119JARID2_20075857_ChIP-Seq_MESCs_Mouse1.10791399
120GATA1_19941827_ChIP-Seq_MEL_Mouse1.10538015
121PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.09648657
122EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.08988502
123GATA2_22383799_ChIP-Seq_G1ME_Mouse1.08838647
124DNAJC2_21179169_ChIP-ChIP_NT2_Human1.08507638
125EZH2_18974828_ChIP-Seq_MESCs_Mouse1.07713478
126RNF2_18974828_ChIP-Seq_MESCs_Mouse1.07713478
127TET1_21451524_ChIP-Seq_MESCs_Mouse1.07565416
128E2F1_20622854_ChIP-Seq_HELA_Human1.07384619
129SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.06909866
130NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.06780780
131* CREB1_26743006_Chip-Seq_LNCaP_Human1.06502844
132SA1_27219007_Chip-Seq_Bcells_Human1.06372915
133RNF2_27304074_Chip-Seq_ESCs_Mouse1.05276267
134WDR5_24793694_ChIP-Seq_LNCAP_Human1.05180591
135LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04036849
136STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.03634543
137SA1_27219007_Chip-Seq_ERYTHROID_Human1.03087450
138YY1_22570637_ChIP-Seq_MALME-3M_Human1.02641746
139P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.01913034
140BCAT_22108803_ChIP-Seq_LS180_Human1.01796041
141TBL1_22424771_ChIP-Seq_293T_Human1.01737262
142HIF1A_21447827_ChIP-Seq_MCF-7_Human1.01704438
143MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01546778
144BCL6_27268052_Chip-Seq_Bcells_Human1.00948663
145RARB_24833708_ChIP-Seq_LIVER_Mouse1.00900885
146IRF8_27001747_Chip-Seq_BMDM_Mouse1.00882420
147RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00550421
148CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99929647
149SMAD4_21799915_ChIP-Seq_A2780_Human0.99623642
150TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.99534449
151GF1_26923725_Chip-Seq_HPCs_Mouse0.98681557
152ATF3_27146783_Chip-Seq_COLON_Human0.98608893
153OCT4_19829295_ChIP-Seq_ESCs_Human0.98413740
154VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.97189641
155FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.97126348
156EZH2_27304074_Chip-Seq_ESCs_Mouse0.97041447
157PU.1_20513432_ChIP-Seq_Bcells_Mouse0.96828225
158SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.96294898
159P300_27058665_Chip-Seq_ZR-75-30cells_Human0.96174802
160FOXM1_23109430_ChIP-Seq_U2OS_Human0.95968366
161SCL_19346495_ChIP-Seq_HPC-7_Human0.95499679
162ZFP281_27345836_Chip-Seq_ESCs_Mouse0.95345452
163* P68_20966046_ChIP-Seq_HELA_Human0.95092791
164HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.94750431
165STAT1_17558387_ChIP-Seq_HELA_Human0.94609996
166CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.94058560
167RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.93461567
168OCT1_27270436_Chip-Seq_PROSTATE_Human0.92826983
169SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.92654015
170CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.92274229
171PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.92037678
172RUNX_20019798_ChIP-Seq_JUKART_Human0.91485975
173GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.91425627
174CBP_21632823_ChIP-Seq_H3396_Human0.91166609
175GATA1_26923725_Chip-Seq_HPCs_Mouse0.89228097
176SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.88751884
177FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.88070547
178EGR1_19032775_ChIP-ChIP_M12_Human0.87374710
179ERA_21632823_ChIP-Seq_H3396_Human0.87251670
180EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.86972201
181P300_19829295_ChIP-Seq_ESCs_Human0.86614492
182SMAD4_21741376_ChIP-Seq_HESCs_Human0.85725571
183RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.84955717
184DPY_21335234_ChIP-Seq_ESCs_Mouse0.84810052
185SMAD4_21741376_ChIP-Seq_ESCs_Human0.84287581
186STAT3_23295773_ChIP-Seq_U87_Human0.84212141

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005551_abnormal_eye_electrophysiolog9.76520817
2MP0005253_abnormal_eye_physiology7.03325497
3MP0006072_abnormal_retinal_apoptosis6.34954272
4MP0003950_abnormal_plasma_membrane4.77916080
5MP0005451_abnormal_body_composition4.28994744
6MP0005195_abnormal_posterior_eye3.90265266
7MP0001986_abnormal_taste_sensitivity3.60914663
8MP0002638_abnormal_pupillary_reflex3.49916584
9MP0003436_decreased_susceptibility_to3.47456251
10MP0001324_abnormal_eye_pigmentation3.42182228
11MP0005423_abnormal_somatic_nervous3.36472589
12MP0005391_vision/eye_phenotype3.36036961
13MP0008260_abnormal_autophagy2.77459277
14MP0003221_abnormal_cardiomyocyte_apopto2.69308402
15MP0009840_abnormal_foam_cell2.54526997
16MP0002090_abnormal_vision2.52180594
17MP0001764_abnormal_homeostasis2.46611448
18MP0005083_abnormal_biliary_tract2.46485317
19MP0003191_abnormal_cellular_cholesterol2.45933902
20MP0002229_neurodegeneration2.43502823
21MP0003303_peritoneal_inflammation2.39265260
22MP0003300_gastrointestinal_ulcer2.22181806
23MP0003763_abnormal_thymus_physiology2.13624695
24MP0003656_abnormal_erythrocyte_physiolo2.10509036
25MP0003011_delayed_dark_adaptation10.3661191
26MP0009278_abnormal_bone_marrow1.94711647
27MP0002752_abnormal_somatic_nervous1.89779855
28MP0002102_abnormal_ear_morphology1.87575794
29MP0001800_abnormal_humoral_immune1.84727876
30MP0005671_abnormal_response_to1.78107944
31MP0003183_abnormal_peptide_metabolism1.73897082
32MP0002419_abnormal_innate_immunity1.72134175
33MP0002398_abnormal_bone_marrow1.71202537
34MP0002396_abnormal_hematopoietic_system1.63635623
35MP0002420_abnormal_adaptive_immunity1.62112064
36MP0001819_abnormal_immune_cell1.58507742
37MP0000747_muscle_weakness1.57370502
38MP0005025_abnormal_response_to1.56641614
39MP0002723_abnormal_immune_serum1.56169017
40MP0004510_myositis1.56077048
41MP0002452_abnormal_antigen_presenting1.55279482
42MP0005000_abnormal_immune_tolerance1.48337215
43MP0001348_abnormal_lacrimal_gland1.46045291
44MP0000703_abnormal_thymus_morphology1.43469262
45MP0000716_abnormal_immune_system1.43211714
46MP0009785_altered_susceptibility_to1.42342148
47MP0008007_abnormal_cellular_replicative1.39365224
48MP0005387_immune_system_phenotype1.36626523
49MP0001790_abnormal_immune_system1.36626523
50MP0000689_abnormal_spleen_morphology1.34844170
51MP0002882_abnormal_neuron_morphology1.33648732
52MP0002722_abnormal_immune_system1.32955140
53MP0001545_abnormal_hematopoietic_system1.30429422
54MP0005397_hematopoietic_system_phenotyp1.30429422
55MP0004947_skin_inflammation1.30303310
56MP0005058_abnormal_lysosome_morphology1.28042772
57MP0002429_abnormal_blood_cell1.27948372
58MP0008874_decreased_physiological_sensi1.27900670
59MP0003172_abnormal_lysosome_physiology1.27605664
60MP0001835_abnormal_antigen_presentation1.27118019
61MP0000858_altered_metastatic_potential1.23254516
62MP0004019_abnormal_vitamin_homeostasis1.22537756
63MP0001984_abnormal_olfaction1.20371028
64MP0005464_abnormal_platelet_physiology1.16449721
65MP0005197_abnormal_uvea_morphology1.15222247
66MP0002127_abnormal_cardiovascular_syste1.13879225
67MP0002132_abnormal_respiratory_system1.11239527
68MP0000678_abnormal_parathyroid_gland1.06960229
69MP0002405_respiratory_system_inflammati1.06554000
70MP0003828_pulmonary_edema1.05150959
71MP0006035_abnormal_mitochondrial_morpho1.03864620
72MP0003329_amyloid_beta_deposits1.02419752
73MP0000685_abnormal_immune_system1.02085617
74MP0009333_abnormal_splenocyte_physiolog1.01996228
75MP0000313_abnormal_cell_death0.99714107
76MP0002089_abnormal_postnatal_growth/wei0.99386614
77MP0004858_abnormal_nervous_system0.98942065
78MP0004087_abnormal_muscle_fiber0.98132827
79MP0004233_abnormal_muscle_weight0.97617208
80MP0002332_abnormal_exercise_endurance0.97403156
81MP0003111_abnormal_nucleus_morphology0.96901344
82MP0003806_abnormal_nucleotide_metabolis0.96638856
83MP0004185_abnormal_adipocyte_glucose0.96506346
84MP0005187_abnormal_penis_morphology0.96241389
85MP0010630_abnormal_cardiac_muscle0.95013334
86MP0001845_abnormal_inflammatory_respons0.93569197
87MP0004885_abnormal_endolymph0.93035190
88MP0009115_abnormal_fat_cell0.90015950
89MP0005394_taste/olfaction_phenotype0.89190757
90MP0005499_abnormal_olfactory_system0.89190757
91MP0003724_increased_susceptibility_to0.88530696
92MP0000609_abnormal_liver_physiology0.88170604
93MP0006138_congestive_heart_failure0.86257668
94MP0003690_abnormal_glial_cell0.83162553
95MP0001533_abnormal_skeleton_physiology0.82898909
96MP0002272_abnormal_nervous_system0.82083939
97MP0002653_abnormal_ependyma_morphology0.81985045
98MP0004197_abnormal_fetal_growth/weight/0.81853330
99MP0008789_abnormal_olfactory_epithelium0.81765251
100MP0004264_abnormal_extraembryonic_tissu0.80886600
101MP0001502_abnormal_circadian_rhythm0.80293695
102MP0000604_amyloidosis0.78889268
103MP0003566_abnormal_cell_adhesion0.78446762
104MP0003634_abnormal_glial_cell0.78058314
105MP0002877_abnormal_melanocyte_morpholog0.76742563
106MP0000759_abnormal_skeletal_muscle0.75371379
107MP0003693_abnormal_embryo_hatching0.74524712
108MP0008995_early_reproductive_senescence0.74298802
109MP0000598_abnormal_liver_morphology0.73257578
110MP0008469_abnormal_protein_level0.71615078
111MP0002269_muscular_atrophy0.69451071
112MP0005621_abnormal_cell_physiology0.67530328
113MP0002106_abnormal_muscle_physiology0.66828625
114MP0008961_abnormal_basal_metabolism0.66597743
115MP0003959_abnormal_lean_body0.64549013
116MP0005376_homeostasis/metabolism_phenot0.58314137
117MP0004270_analgesia0.56468132
118MP0006292_abnormal_olfactory_placode0.56286887
119MP0001486_abnormal_startle_reflex0.55638303
120MP0004782_abnormal_surfactant_physiolog0.52268647
121MP0002734_abnormal_mechanical_nocicepti0.48582374
122MP0001963_abnormal_hearing_physiology0.48179392
123MP0004145_abnormal_muscle_electrophysio0.46278865
124MP0009046_muscle_twitch0.45824575
125MP0001286_abnormal_eye_development0.44948067
126MP0005595_abnormal_vascular_smooth0.43365466
127MP0008058_abnormal_DNA_repair0.43355843
128MP0003646_muscle_fatigue0.42396502
129MP0003045_fibrosis0.41784009
130MP0002064_seizures0.40306688
131MP0003880_abnormal_central_pattern0.40039589
132MP0001905_abnormal_dopamine_level0.38316457
133MP0004085_abnormal_heartbeat0.35992966
134MP0004142_abnormal_muscle_tone0.35980153
135MP0005620_abnormal_muscle_contractility0.34632043
136MP0002067_abnormal_sensory_capabilities0.34339314
137MP0004215_abnormal_myocardial_fiber0.33818128
138MP0002572_abnormal_emotion/affect_behav0.32835960
139MP0001661_extended_life_span0.32792065
140MP0000026_abnormal_inner_ear0.32376648
141MP0003635_abnormal_synaptic_transmissio0.31047757
142MP0004859_abnormal_synaptic_plasticity0.30508886
143MP0003638_abnormal_response/metabolism_0.29630686
144MP0002063_abnormal_learning/memory/cond0.29291069
145MP0005084_abnormal_gallbladder_morpholo0.29177141
146MP0003252_abnormal_bile_duct0.28943823
147MP0000465_gastrointestinal_hemorrhage0.27966286
148MP0004043_abnormal_pH_regulation0.27628905
149MP0005076_abnormal_cell_differentiation0.27500723
150MP0009745_abnormal_behavioral_response0.27136989
151MP0002928_abnormal_bile_duct0.27103542
152MP0005646_abnormal_pituitary_gland0.24211728
153MP0000631_abnormal_neuroendocrine_gland0.23886160
154MP0000767_abnormal_smooth_muscle0.23297802
155MP0000751_myopathy0.23149797
156MP0002108_abnormal_muscle_morphology0.22602704
157MP0001968_abnormal_touch/_nociception0.20979651
158MP0000230_abnormal_systemic_arterial0.20915981
159MP0005310_abnormal_salivary_gland0.20892851
160MP0001188_hyperpigmentation0.19988426
161MP0003943_abnormal_hepatobiliary_system0.19581296
162MP0004924_abnormal_behavior0.19060621
163MP0005386_behavior/neurological_phenoty0.19060621
164MP0005193_abnormal_anterior_eye0.17282350
165MP0004811_abnormal_neuron_physiology0.16027492
166MP0002168_other_aberrant_phenotype0.15502949
167MP0001915_intracranial_hemorrhage0.13923537
168MP0008569_lethality_at_weaning0.13920342
169MP0002066_abnormal_motor_capabilities/c0.13836218
170MP0005330_cardiomyopathy0.13146769
171MP0005266_abnormal_metabolism0.13001288
172MP0001501_abnormal_sleep_pattern0.12319817
173MP0008004_abnormal_stomach_pH0.11658415
174MP0002152_abnormal_brain_morphology0.11259765
175MP0000749_muscle_degeneration0.10293365
176MP0005319_abnormal_enzyme/_coenzyme0.09887811
177MP0003632_abnormal_nervous_system0.09369084
178MP0001177_atelectasis0.08709913
179MP0001614_abnormal_blood_vessel0.08535812
180MP0009780_abnormal_chondrocyte_physiolo0.07928195
181MP0000001_mammalian_phenotype0.07868849
182MP0005365_abnormal_bile_salt0.07651372
183MP0009764_decreased_sensitivity_to0.07520841
184MP0002184_abnormal_innervation0.07246977

Predicted human phenotypes

RankGene SetZ-score
1Absent rod-and cone-mediated responses on ERG (HP:0007688)9.86544227
2Chorioretinal atrophy (HP:0000533)9.37145856
3Attenuation of retinal blood vessels (HP:0007843)8.33224517
4Pendular nystagmus (HP:0012043)7.44503421
5Central scotoma (HP:0000603)7.20512975
6Abnormality of macular pigmentation (HP:0008002)6.77512722
7Dyschromatopsia (HP:0007641)6.47212901
8Scotoma (HP:0000575)6.47002011
9Decreased central vision (HP:0007663)6.06766131
10Abolished electroretinogram (ERG) (HP:0000550)5.70437353
11* Type II diabetes mellitus (HP:0005978)5.68555437
12* Photophobia (HP:0000613)5.55584477
13Keratoconus (HP:0000563)5.02417070
14Increased corneal curvature (HP:0100692)5.02417070
15Retinitis pigmentosa (HP:0000510)4.87587034
16Macular degeneration (HP:0000608)4.67363410
17Vitreoretinal degeneration (HP:0000655)4.65808446
18Choroideremia (HP:0001139)4.64603897
19Cone-rod dystrophy (HP:0000548)4.41276266
20Peripheral hypomyelination (HP:0007182)4.32557847
21Hemorrhage of the eye (HP:0011885)4.03248193
22Ulnar claw (HP:0001178)3.99954391
23Severe visual impairment (HP:0001141)3.91491989
24Reticulocytosis (HP:0001923)3.69533160
25Constricted visual fields (HP:0001133)3.60628017
26Progressive inability to walk (HP:0002505)3.60367842
27Decreased electroretinogram (ERG) amplitude (HP:0000654)3.60000606
28Decreased number of large peripheral myelinated nerve fibers (HP:0003387)3.57593830
29Eczematoid dermatitis (HP:0000976)3.50933432
30Progressive external ophthalmoplegia (HP:0000590)3.45262637
31Increased IgE level (HP:0003212)3.23883589
32Posterior subcapsular cataract (HP:0007787)3.18893997
33Poikiloderma (HP:0001029)3.10884752
34Abnormality of macrophages (HP:0004311)3.07703459
35Segmental peripheral demyelination/remyelination (HP:0003481)3.05341568
36Gait imbalance (HP:0002141)2.97433264
37Agammaglobulinemia (HP:0004432)2.96316149
38Congenital primary aphakia (HP:0007707)2.95427766
39Progressive visual loss (HP:0000529)2.92169514
40Optic disc pallor (HP:0000543)2.92167548
41Gastrointestinal infarctions (HP:0005244)2.89033189
42Episodic fever (HP:0001954)2.88794632
43Decreased motor nerve conduction velocity (HP:0003431)2.81529201
44Foot dorsiflexor weakness (HP:0009027)2.74306635
45Polycythemia (HP:0001901)2.71707681
46Onion bulb formation (HP:0003383)2.70927294
47Retinal atrophy (HP:0001105)2.69703258
48Abnormality of the foot musculature (HP:0001436)2.69669187
49Deep venous thrombosis (HP:0002625)2.69247547
50Exercise-induced myalgia (HP:0003738)2.68466860
51Steppage gait (HP:0003376)2.65500327
52Cellulitis (HP:0100658)2.64049872
53Nephrogenic diabetes insipidus (HP:0009806)2.63393979
54Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.62019153
55Papilloma (HP:0012740)2.59507849
56Verrucae (HP:0200043)2.59507849
57Medial flaring of the eyebrow (HP:0010747)2.55759392
58Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.55659638
59Increased variability in muscle fiber diameter (HP:0003557)2.54846331
60* Wide nasal bridge (HP:0000431)2.53837265
61Abnormality of the left ventricular outflow tract (HP:0011103)2.39754938
62Subaortic stenosis (HP:0001682)2.39754938
63Abnormality of the peritoneum (HP:0002585)2.38896420
64Myopathic facies (HP:0002058)2.38355546
65Hammertoe (HP:0001765)2.35397576
66Poikilocytosis (HP:0004447)2.34773723
67Abnormality of skeletal muscle fiber size (HP:0012084)2.34724401
68Centrally nucleated skeletal muscle fibers (HP:0003687)2.33370946
69Gastrointestinal stroma tumor (HP:0100723)2.31972508
70Spontaneous hematomas (HP:0007420)2.30803033
71Abnormality of the vocal cords (HP:0008777)2.30151646
72Neuronal loss in central nervous system (HP:0002529)2.29850050
73Basal cell carcinoma (HP:0002671)2.28560579
74Poor coordination (HP:0002370)2.27476248
75Supranuclear gaze palsy (HP:0000605)2.22257486
76Osteomyelitis (HP:0002754)2.20842920
77Meningitis (HP:0001287)2.19807875
78Abnormality of the fingertips (HP:0001211)2.19778997
79Abnormal delayed hypersensitivity skin test (HP:0002963)2.14991968
80Bowel incontinence (HP:0002607)2.12541289
81Fatigue (HP:0012378)2.12163871
82Ragged-red muscle fibers (HP:0003200)2.11893481
83Panhypogammaglobulinemia (HP:0003139)2.09761166
84Acute hepatic failure (HP:0006554)2.09616160
85Orchitis (HP:0100796)2.09127918
86Rapidly progressive (HP:0003678)2.09044993
87Recurrent abscess formation (HP:0002722)2.08241197
88Pelvic girdle muscle weakness (HP:0003749)2.06823631
89Myositis (HP:0100614)2.05226266
90Increased serum ferritin (HP:0003281)2.04091173
91Vaginal atresia (HP:0000148)2.03257046
92Obstructive lung disease (HP:0006536)2.03039111
93Chronic obstructive pulmonary disease (HP:0006510)2.03039111
94Thin bony cortex (HP:0002753)2.02642884
95Recurrent pneumonia (HP:0006532)2.02592156
96Recurrent fungal infections (HP:0002841)2.02042394
97Resting tremor (HP:0002322)2.01960879
98Colitis (HP:0002583)2.01001652
99Nonimmune hydrops fetalis (HP:0001790)2.00376083
100Impaired pain sensation (HP:0007328)2.00201578
101Abnormality of pain sensation (HP:0010832)2.00201578
102Congenital stationary night blindness (HP:0007642)17.9061188
103Bony spicule pigmentary retinopathy (HP:0007737)12.2278120
104Abnormal rod and cone electroretinograms (HP:0008323)10.4582894
105Pigmentary retinal degeneration (HP:0001146)10.1959294
106Dysmetric saccades (HP:0000641)1.99444435
107Abnormal hair whorl (HP:0010721)1.98910376
108Mutism (HP:0002300)1.97211914
109Cerebral palsy (HP:0100021)1.96402843
110Joint hemorrhage (HP:0005261)1.94048577
111Genital tract atresia (HP:0001827)1.93917797
112Broad face (HP:0000283)1.92927235
113Congenital sensorineural hearing impairment (HP:0008527)1.92914861
114EMG: neuropathic changes (HP:0003445)1.92823237
115Distal lower limb amyotrophy (HP:0008944)1.91378990
116Deep palmar crease (HP:0006191)1.91128300
117Recurrent viral infections (HP:0004429)1.90823447
118Neonatal respiratory distress (HP:0002643)1.89642121
119Abnormal large intestine physiology (HP:0012700)1.87563997
120Viral hepatitis (HP:0006562)1.87192835
121Abnormal platelet function (HP:0011869)1.86956754
122Impaired platelet aggregation (HP:0003540)1.86956754
123Subcapsular cataract (HP:0000523)1.85386589
124Cortical dysplasia (HP:0002539)1.84357774
125Amblyopia (HP:0000646)1.84128540
126Retrobulbar optic neuritis (HP:0100654)1.82736725
127Optic neuritis (HP:0100653)1.82736725
128Distal sensory impairment (HP:0002936)1.82648212
129Termporal pattern (HP:0011008)1.80437082
130Insidious onset (HP:0003587)1.80437082
131Sepsis (HP:0100806)1.80019139
132True hermaphroditism (HP:0010459)1.79796248
133Peritonitis (HP:0002586)1.77999297
134Birth length less than 3rd percentile (HP:0003561)1.77559361
135Abnormality of reticulocytes (HP:0004312)1.74467308
136Hypochromic anemia (HP:0001931)1.71973073
137* Optic atrophy (HP:0000648)1.65681803
138Interstitial pulmonary disease (HP:0006530)1.64880217
139Aplasia/Hypoplasia of the lens (HP:0008063)1.62199605
140Cerebellar dysplasia (HP:0007033)1.40928456
141Broad foot (HP:0001769)1.27838800
142Dysdiadochokinesis (HP:0002075)1.27016107
143Astigmatism (HP:0000483)1.22712034
144Decreased testicular size (HP:0008734)1.21344864
145Left ventricular hypertrophy (HP:0001712)1.20721266
146Specific learning disability (HP:0001328)1.18844016
147Horizontal nystagmus (HP:0000666)1.18188621
148Pancreatic fibrosis (HP:0100732)1.17088811
149Aplasia/Hypoplasia of the fovea (HP:0008060)1.16121709
150Hypoplasia of the fovea (HP:0007750)1.16121709
151Abnormality of the fovea (HP:0000493)1.13221857
152Retinal detachment (HP:0000541)1.10214259
153Asthma (HP:0002099)1.09728759
154Severe Myopia (HP:0011003)1.08369496
155Recurrent sinusitis (HP:0011108)1.06837182
156Partial agenesis of the corpus callosum (HP:0001338)1.05349685
157Epileptic encephalopathy (HP:0200134)1.03017759
158Cystic liver disease (HP:0006706)0.99054640
159Polar cataract (HP:0010696)0.96528357
160Pancreatic cysts (HP:0001737)0.92185158
161Febrile seizures (HP:0002373)0.90869295
162Abnormal sex determination (HP:0012244)0.90237170
163Sex reversal (HP:0012245)0.90237170
164Aplasia/Hypoplasia of the macula (HP:0008059)0.84945922
165Dental crowding (HP:0000678)0.84496857
166Truncal ataxia (HP:0002078)0.84194891
167Abnormality of dental color (HP:0011073)0.83788723
168Osteomalacia (HP:0002749)0.82771932
169Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)0.81283578
170Hypodontia (HP:0000668)0.80110751
171Progressive cerebellar ataxia (HP:0002073)0.78659683
172Chorioretinal coloboma (HP:0000567)0.78145183
173Aplasia/Hypoplasia of the tongue (HP:0010295)0.76588217
174Short foot (HP:0001773)0.76117848
175Aplasia/Hypoplasia affecting the retina (HP:0008061)0.75557266
176Heterotopia (HP:0002282)0.72266878
177Polycystic ovaries (HP:0000147)0.72226407
178Hypermetropia (HP:0000540)0.72187016
179Postaxial hand polydactyly (HP:0001162)0.70977050
180Cholecystitis (HP:0001082)0.69509391
181Abnormal gallbladder physiology (HP:0012438)0.69509391
182Nephrotic syndrome (HP:0000100)0.68986560
183Abnormality of midbrain morphology (HP:0002418)0.68311543
184Molar tooth sign on MRI (HP:0002419)0.68311543
185Lymphopenia (HP:0001888)0.67702428
186Chronic hepatic failure (HP:0100626)0.67003073
187Hirsutism (HP:0001007)0.66919620
188Furrowed tongue (HP:0000221)0.66579644
189Sclerocornea (HP:0000647)0.65067710
190Visual hallucinations (HP:0002367)0.62269422
191Abnormality of cells of the lymphoid lineage (HP:0012140)0.61026571
192Multicystic kidney dysplasia (HP:0000003)0.58496523
193Nephronophthisis (HP:0000090)0.58433287
194Prominent nasal bridge (HP:0000426)0.58416817
195Congenital hepatic fibrosis (HP:0002612)0.56055525

Predicted kinase interactions (KEA)

RankGene SetZ-score
1GRK19.26204611
2ERN13.89387014
3SIK33.88977107
4CCNB13.39684336
5EEF2K3.35223999
6RIPK42.77752647
7PRPF4B2.61921890
8MAP3K112.51596117
9MAP4K12.44568749
10IRAK22.38449965
11INSRR2.34971757
12EPHB12.20577383
13TRIB32.16985369
14PINK12.14372009
15PBK10.3040996
16KSR11.98540288
17TAOK31.94117222
18RPS6KA41.80959906
19KSR21.77830110
20TYK21.69687728
21MAPK71.69678523
22MAP3K131.65561685
23SIK11.64674476
24ADRBK11.61676100
25MAP2K31.56962846
26MAP3K11.53565552
27MAP3K121.52296228
28ZAP701.41623312
29SMG11.30962265
30IRAK41.30493787
31MAP2K41.30244082
32PRKCZ1.28169355
33ICK1.25197394
34SIK21.23544343
35IRAK31.18363491
36TBK11.18018686
37CDK31.16825500
38MAPK121.15280991
39BCR1.11472949
40SGK2231.07328916
41SGK4941.07328916
42MARK21.05824492
43CAMK1G1.05615986
44BLK1.03638108
45NEK61.02338891
46RIPK11.00609829
47CSK0.99267001
48MAP3K140.99070876
49CLK10.98399578
50AKT30.95843304
51CAMK1D0.94363137
52TYRO30.92430124
53MARK10.90917820
54IKBKE0.89691827
55PRKD30.88055006
56MKNK20.87759948
57NEK10.87145558
58BRD40.86217127
59FGFR40.85578300
60STK380.84485847
61MARK30.84300554
62JAK20.81931731
63CSNK1D0.81201703
64SGK20.80483279
65MAP3K50.79350844
66PDK10.78847874
67BMX0.77867207
68NEK20.77297937
69HCK0.77123144
70ALK0.76868236
71MINK10.74928321
72TRIM280.74925678
73DYRK30.74768364
74HIPK20.72040197
75TTK0.71987483
76CSNK1A1L0.71975030
77MAPK110.71934949
78PHKG20.71563469
79PHKG10.71563469
80PRKCH0.68645848
81CDK120.68447575
82MOS0.67681208
83SYK0.67437818
84PDPK10.66742708
85PRKACG0.66619723
86PRKAA10.65545196
87CAMKK10.65233190
88SGK30.64756313
89TTN0.63552168
90MAP3K100.61529135
91PAK60.61356271
92GRK60.58214519
93RPS6KA50.57578272
94JAK10.57551843
95RPS6KB20.57154815
96MATK0.57055283
97MTOR0.56391169
98DYRK1A0.55988565
99MAP3K30.55671160
100BTK0.54995046
101STK100.54929825
102CDK40.54776903
103FES0.54240260
104PRKCB0.54040864
105TAOK20.53819943
106TESK20.53028951
107PNCK0.52609075
108CAMK10.51778599
109WNK10.51635183
110CAMK2D0.51089924
111GRK50.50910790
112CAMK2A0.50031581
113MYLK0.49954637
114PASK0.48770725
115MAP2K60.48575246
116PDGFRB0.47832268
117RPS6KA30.47700927
118MAPK130.47201729
119PDK20.45688764
120PRKCG0.45653194
121TGFBR20.45001098
122PRKAA20.44871214
123LCK0.43607637
124CDK180.43409959
125MAPK150.42138334
126PKN20.41845376
127ERBB20.41279475
128PIM10.40825174
129AKT20.40511739
130CASK0.39859498
131CDK140.39732969
132PLK20.39319554
133MAP3K40.39292352
134CSF1R0.37430460
135FGR0.36970606
136MAPKAPK20.36624421
137CDK150.36425286
138PRKDC0.36233046
139CHEK20.34293066
140SGK10.32591880
141RPS6KB10.31976587
142PRKACA0.31960892
143MAPK90.31293143
144PRKD20.31250752
145GSK3B0.28605449
146PRKCA0.28373396
147MAPK140.27480785
148CAMK40.27379711
149MKNK10.26541473
150YES10.26320695
151PLK30.25895389
152MAPK30.21408034
153CHUK0.20149703
154MAPK100.20007965
155CDK50.19033436
156SCYL20.18860424
157STK110.18230105
158CDK10.16900626
159NTRK30.16320817
160MAP3K70.15967610
161PKN10.15218639
162IRAK10.12719418
163TNK20.12549655
164CHEK10.12324400
165MAP2K70.11966178
166PRKCI0.10023718
167CSNK1E0.09125319
168MAPK80.08549674
169SRC0.08270608
170CDK90.07770152
171CDC42BPA0.07521226
172DYRK1B0.07471982
173ATM0.07385615

Predicted pathways (KEGG)

RankGene SetZ-score
1Fc epsilon RI signaling pathway_Homo sapiens_hsa046642.28078245
2B cell receptor signaling pathway_Homo sapiens_hsa046622.24178622
3Primary immunodeficiency_Homo sapiens_hsa053402.15721466
4Acute myeloid leukemia_Homo sapiens_hsa052212.14033551
5Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.05020994
6* Phototransduction_Homo sapiens_hsa0474416.1919489
7Osteoclast differentiation_Homo sapiens_hsa043801.92785215
8Non-small cell lung cancer_Homo sapiens_hsa052231.78074273
9Chronic myeloid leukemia_Homo sapiens_hsa052201.76565400
10VEGF signaling pathway_Homo sapiens_hsa043701.75894133
11Toll-like receptor signaling pathway_Homo sapiens_hsa046201.61724110
12Pancreatic cancer_Homo sapiens_hsa052121.58227510
13T cell receptor signaling pathway_Homo sapiens_hsa046601.54404816
14Synaptic vesicle cycle_Homo sapiens_hsa047211.52622724
15Cyanoamino acid metabolism_Homo sapiens_hsa004601.51655168
16Renal cell carcinoma_Homo sapiens_hsa052111.51319490
17Hepatitis B_Homo sapiens_hsa051611.46870784
18NOD-like receptor signaling pathway_Homo sapiens_hsa046211.45002109
19Neurotrophin signaling pathway_Homo sapiens_hsa047221.44896701
20Olfactory transduction_Homo sapiens_hsa047401.43530281
21Other glycan degradation_Homo sapiens_hsa005111.40957668
22Herpes simplex infection_Homo sapiens_hsa051681.36377415
23Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.30854411
24Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.30705300
25ErbB signaling pathway_Homo sapiens_hsa040121.29031513
26RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.26661400
27Leishmaniasis_Homo sapiens_hsa051401.25573041
28Tuberculosis_Homo sapiens_hsa051521.24343657
29NF-kappa B signaling pathway_Homo sapiens_hsa040641.23542665
30Prolactin signaling pathway_Homo sapiens_hsa049171.20027627
31Apoptosis_Homo sapiens_hsa042101.17195671
32Influenza A_Homo sapiens_hsa051641.17090089
33TNF signaling pathway_Homo sapiens_hsa046681.17077426
34FoxO signaling pathway_Homo sapiens_hsa040681.14741317
35Measles_Homo sapiens_hsa051621.14499860
36Hepatitis C_Homo sapiens_hsa051601.11766793
37GABAergic synapse_Homo sapiens_hsa047271.08301194
38Viral carcinogenesis_Homo sapiens_hsa052031.08169959
39Endometrial cancer_Homo sapiens_hsa052131.07606500
40Colorectal cancer_Homo sapiens_hsa052101.05886556
41Choline metabolism in cancer_Homo sapiens_hsa052311.05467407
42Retinol metabolism_Homo sapiens_hsa008301.04678329
43Endocytosis_Homo sapiens_hsa041441.00013498
44MAPK signaling pathway_Homo sapiens_hsa040100.98906351
45Insulin signaling pathway_Homo sapiens_hsa049100.97943359
46GnRH signaling pathway_Homo sapiens_hsa049120.96773166
47Thyroid cancer_Homo sapiens_hsa052160.92950335
48Epstein-Barr virus infection_Homo sapiens_hsa051690.90975217
49Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.90100152
50Jak-STAT signaling pathway_Homo sapiens_hsa046300.89601220
51Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.86425078
52Toxoplasmosis_Homo sapiens_hsa051450.86363937
53Shigellosis_Homo sapiens_hsa051310.85728461
54AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.82444530
55Cholinergic synapse_Homo sapiens_hsa047250.81281090
56Sphingolipid signaling pathway_Homo sapiens_hsa040710.80214483
57Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.78882445
58Adipocytokine signaling pathway_Homo sapiens_hsa049200.78811128
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.76374668
60Phospholipase D signaling pathway_Homo sapiens_hsa040720.75836685
61Morphine addiction_Homo sapiens_hsa050320.75751733
62Circadian rhythm_Homo sapiens_hsa047100.73833357
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.72445632
64Legionellosis_Homo sapiens_hsa051340.72122623
65Dopaminergic synapse_Homo sapiens_hsa047280.71520915
66Circadian entrainment_Homo sapiens_hsa047130.70544392
67Viral myocarditis_Homo sapiens_hsa054160.70286810
68Glutamatergic synapse_Homo sapiens_hsa047240.65373796
69Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.65199557
70Glioma_Homo sapiens_hsa052140.64840244
71Staphylococcus aureus infection_Homo sapiens_hsa051500.64062524
72Prion diseases_Homo sapiens_hsa050200.62470351
73Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.61424789
74Bladder cancer_Homo sapiens_hsa052190.61266370
75Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.60069375
76Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.59949563
77Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.59841485
78Serotonergic synapse_Homo sapiens_hsa047260.59374757
79Platelet activation_Homo sapiens_hsa046110.55476723
80ABC transporters_Homo sapiens_hsa020100.55451574
81Estrogen signaling pathway_Homo sapiens_hsa049150.54731907
82HTLV-I infection_Homo sapiens_hsa051660.49514462
83Notch signaling pathway_Homo sapiens_hsa043300.49442645
84Arginine biosynthesis_Homo sapiens_hsa002200.49364274
85Fructose and mannose metabolism_Homo sapiens_hsa000510.47044469
86Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.46571615
87Long-term depression_Homo sapiens_hsa047300.46010463
88MicroRNAs in cancer_Homo sapiens_hsa052060.45242883
89cGMP-PKG signaling pathway_Homo sapiens_hsa040220.45049310
90Pertussis_Homo sapiens_hsa051330.45028468
91Purine metabolism_Homo sapiens_hsa002300.44470515
92Insulin secretion_Homo sapiens_hsa049110.44342696
93Prostate cancer_Homo sapiens_hsa052150.44148921
94SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43908294
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.43137986
96Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.42958726
97Leukocyte transendothelial migration_Homo sapiens_hsa046700.41768625
98Rap1 signaling pathway_Homo sapiens_hsa040150.39745213
99Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.34562360
100Nicotine addiction_Homo sapiens_hsa050330.34322192
101Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.33927239
102Biosynthesis of amino acids_Homo sapiens_hsa012300.33876517
103Nitrogen metabolism_Homo sapiens_hsa009100.32680637
104Galactose metabolism_Homo sapiens_hsa000520.32666702
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.32519312
106Phosphatidylinositol signaling system_Homo sapiens_hsa040700.31095534
107Aldosterone synthesis and secretion_Homo sapiens_hsa049250.30575027
108Drug metabolism - other enzymes_Homo sapiens_hsa009830.29465720
109Oxytocin signaling pathway_Homo sapiens_hsa049210.28444130
110cAMP signaling pathway_Homo sapiens_hsa040240.27940354
111Caffeine metabolism_Homo sapiens_hsa002320.27938538
112Carbohydrate digestion and absorption_Homo sapiens_hsa049730.27502805
113Fatty acid elongation_Homo sapiens_hsa000620.27334212
114Inositol phosphate metabolism_Homo sapiens_hsa005620.25534634
115Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.25151315
116Dilated cardiomyopathy_Homo sapiens_hsa054140.24040607
117Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.22457693
118Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.22120580
119Cardiac muscle contraction_Homo sapiens_hsa042600.21463366
120Vitamin B6 metabolism_Homo sapiens_hsa007500.21248100
121Glycerolipid metabolism_Homo sapiens_hsa005610.20793561
122Renin secretion_Homo sapiens_hsa049240.19578181
123mTOR signaling pathway_Homo sapiens_hsa041500.19362154
124Chemokine signaling pathway_Homo sapiens_hsa040620.19189571
125Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.19103159
126Vitamin digestion and absorption_Homo sapiens_hsa049770.18484498
127Alcoholism_Homo sapiens_hsa050340.17612223
128Salivary secretion_Homo sapiens_hsa049700.16540735
129Central carbon metabolism in cancer_Homo sapiens_hsa052300.15729971
130Type II diabetes mellitus_Homo sapiens_hsa049300.15668248
131Glucagon signaling pathway_Homo sapiens_hsa049220.15538492
132Cysteine and methionine metabolism_Homo sapiens_hsa002700.15030256
133Glycerophospholipid metabolism_Homo sapiens_hsa005640.14310670
134HIF-1 signaling pathway_Homo sapiens_hsa040660.14235393
135Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.13640057
136Cocaine addiction_Homo sapiens_hsa050300.13027200
137Maturity onset diabetes of the young_Homo sapiens_hsa049500.12900169
138Gastric acid secretion_Homo sapiens_hsa049710.11565110
139AMPK signaling pathway_Homo sapiens_hsa041520.11258502
1402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.11005991
141Thyroid hormone signaling pathway_Homo sapiens_hsa049190.09982911
142Primary bile acid biosynthesis_Homo sapiens_hsa001200.09238361
143Lysine degradation_Homo sapiens_hsa003100.08805095
144Longevity regulating pathway - mammal_Homo sapiens_hsa042110.08599716
145Collecting duct acid secretion_Homo sapiens_hsa049660.08212903
146Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.07838074
147Calcium signaling pathway_Homo sapiens_hsa040200.07667970
148Folate biosynthesis_Homo sapiens_hsa007900.06986830
149Long-term potentiation_Homo sapiens_hsa047200.06570434
150Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.06364794
151Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.05991495
152Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.05675005
153Carbon metabolism_Homo sapiens_hsa012000.05617557
154Ras signaling pathway_Homo sapiens_hsa040140.05599903
155Bile secretion_Homo sapiens_hsa049760.05199486
156Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.05116459
157Taste transduction_Homo sapiens_hsa047420.04921061
158Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.04545877
159Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.04216189
160Pyruvate metabolism_Homo sapiens_hsa006200.04029274
161Pancreatic secretion_Homo sapiens_hsa049720.04023217
162Base excision repair_Homo sapiens_hsa034100.03509541
163mRNA surveillance pathway_Homo sapiens_hsa030150.03407221
164Linoleic acid metabolism_Homo sapiens_hsa005910.03287601
165Amphetamine addiction_Homo sapiens_hsa050310.03205911
166Fat digestion and absorption_Homo sapiens_hsa049750.02961411
167RNA degradation_Homo sapiens_hsa030180.02701011
168Starch and sucrose metabolism_Homo sapiens_hsa005000.02446927
169alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.02382498
170Vascular smooth muscle contraction_Homo sapiens_hsa042700.02292299
171Pentose phosphate pathway_Homo sapiens_hsa000300.01683447
172Insulin resistance_Homo sapiens_hsa049310.01644543
173Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.01295755
174Phenylalanine metabolism_Homo sapiens_hsa003600.01157950

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