PDE6G

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 the gamma subunit of cyclic GMP-phosphodiesterase, which is composed of alpha- and beta- catalytic subunits and two identical, inhibitory gamma subunits. This gene is expressed in rod photoreceptors and functions in the phototransduction signaling cascade. It is also expressed in a variety of other tissues, and has been shown to regulate the c-Src protein kinase and G-protein-coupled receptor kinase 2. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1GMP metabolic process (GO:0046037)9.71676447
2* visual perception (GO:0007601)8.80004841
3* sensory perception of light stimulus (GO:0050953)8.70208576
4retinal rod cell development (GO:0046548)8.51516219
5* cellular response to light stimulus (GO:0071482)7.30704557
6regulation of cGMP metabolic process (GO:0030823)7.17111268
7eye photoreceptor cell differentiation (GO:0001754)7.14046213
8photoreceptor cell differentiation (GO:0046530)7.14046213
9* detection of external stimulus (GO:0009581)7.12038538
10* detection of abiotic stimulus (GO:0009582)6.99062038
11detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)6.80830575
12positive regulation of cGMP biosynthetic process (GO:0030828)6.78769870
13retina development in camera-type eye (GO:0060041)6.56329181
14cell wall macromolecule metabolic process (GO:0044036)6.54740848
15regulation of cGMP biosynthetic process (GO:0030826)6.40237658
16positive regulation of cGMP metabolic process (GO:0030825)5.99955906
17positive regulation of chemokine secretion (GO:0090197)5.80619579
18regulation of inhibitory postsynaptic membrane potential (GO:0060080)5.44445706
19receptor guanylyl cyclase signaling pathway (GO:0007168)5.41209168
20glucosamine-containing compound catabolic process (GO:1901072)5.30777547
21regulation of chemokine secretion (GO:0090196)5.18804454
22positive regulation of synaptic transmission, dopaminergic (GO:0032226)5.13577235
23cell morphogenesis involved in neuron differentiation (GO:0048667)4.98865915
24nonmotile primary cilium assembly (GO:0035058)4.97474565
25* cellular response to radiation (GO:0071478)4.76023206
26positive regulation of B cell differentiation (GO:0045579)4.74507367
27production of molecular mediator involved in inflammatory response (GO:0002532)4.62975141
28adaptation of signaling pathway (GO:0023058)4.35941266
29* regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)4.25662021
30short-term memory (GO:0007614)4.25120899
31regulation of voltage-gated calcium channel activity (GO:1901385)4.14503463
32* sensory perception (GO:0007600)4.12932113
33regulation of penile erection (GO:0060405)4.00950946
34antigen processing and presentation of endogenous antigen (GO:0019883)3.98319813
35detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.95768933
36immunoglobulin mediated immune response (GO:0016064)3.94190437
37* response to light stimulus (GO:0009416)3.88446489
38regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.86590937
39regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.86590937
40behavioral response to ethanol (GO:0048149)3.84643372
41protein prenylation (GO:0018342)3.83108484
42prenylation (GO:0097354)3.83108484
43Peyers patch development (GO:0048541)3.79313095
44mucosal-associated lymphoid tissue development (GO:0048537)3.79313095
45positive regulation of sodium ion transmembrane transporter activity (GO:2000651)3.78929707
46estrogen biosynthetic process (GO:0006703)3.78374451
47amino sugar catabolic process (GO:0046348)3.77729725
48chemosensory behavior (GO:0007635)3.75805639
49positive thymic T cell selection (GO:0045059)3.75137772
50negative T cell selection (GO:0043383)3.72788064
51neuron development (GO:0048666)3.66270534
52negative thymic T cell selection (GO:0045060)3.63796177
53retina homeostasis (GO:0001895)3.62236907
54purine deoxyribonucleotide catabolic process (GO:0009155)3.61369019
55detection of chemical stimulus involved in sensory perception (GO:0050907)3.61182193
56negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.59261757
57negative regulation of cell killing (GO:0031342)3.59261757
58retina layer formation (GO:0010842)3.58623628
59DNA deamination (GO:0045006)3.55161830
60pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.53778048
61positive regulation of prostaglandin secretion (GO:0032308)3.53012866
62response to histamine (GO:0034776)3.51948891
63positive regulation of gamma-delta T cell activation (GO:0046645)3.48481108
64regulation of clathrin-mediated endocytosis (GO:2000369)3.42818322
65deoxyribonucleoside triphosphate metabolic process (GO:0009200)3.41641407
66deoxyribonucleotide catabolic process (GO:0009264)3.33778879
67positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.33527184
68regulation of B cell differentiation (GO:0045577)3.33506438
69antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.30375501
70regulation of gamma-delta T cell differentiation (GO:0045586)3.30041569
71response to interferon-beta (GO:0035456)3.29761302
72vitamin A metabolic process (GO:0006776)3.28207755
73positive regulation of sodium ion transmembrane transport (GO:1902307)3.26664458
74purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)3.24987716
75positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.24018279
76B cell mediated immunity (GO:0019724)3.23015606
77antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.20166653
78purine nucleotide salvage (GO:0032261)3.17974349
79positive regulation of neurotransmitter transport (GO:0051590)3.17371294
80deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.14843150
81negative regulation of B cell apoptotic process (GO:0002903)3.14729020
82ribosomal small subunit assembly (GO:0000028)3.13313543
83positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.12130145
84positive T cell selection (GO:0043368)3.11071786
85deoxyribose phosphate catabolic process (GO:0046386)3.10107915
86retinoid metabolic process (GO:0001523)3.08581743
87CDP-diacylglycerol biosynthetic process (GO:0016024)3.07030535
88positive regulation of interleukin-17 production (GO:0032740)3.03073322
89mast cell activation (GO:0045576)3.02581304
90regulation of B cell apoptotic process (GO:0002902)2.99102753
91regulation of gamma-delta T cell activation (GO:0046643)2.98862600
92regulation of dendritic cell antigen processing and presentation (GO:0002604)2.95105185
93membrane hyperpolarization (GO:0060081)2.93772954
94Arp2/3 complex-mediated actin nucleation (GO:0034314)2.93504309
95negative regulation of receptor-mediated endocytosis (GO:0048261)2.93129341
96positive regulation of T cell cytokine production (GO:0002726)2.93129121
97icosanoid secretion (GO:0032309)2.90854732
98arachidonic acid secretion (GO:0050482)2.90854732
99negative regulation of T cell apoptotic process (GO:0070233)2.88621235
100antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.87987185
101tumor necrosis factor-mediated signaling pathway (GO:0033209)2.87447770
102protein heterotetramerization (GO:0051290)2.86925150
103pyrimidine nucleotide catabolic process (GO:0006244)2.86497404
104diterpenoid metabolic process (GO:0016101)2.84617300
105response to peptidoglycan (GO:0032494)2.83683353
106synaptic transmission, dopaminergic (GO:0001963)2.83354986
107regulation of prostaglandin secretion (GO:0032306)2.83148436
108positive regulation of defense response to virus by host (GO:0002230)2.82992516
109CDP-diacylglycerol metabolic process (GO:0046341)2.82713584
110positive regulation of antigen processing and presentation (GO:0002579)2.82654975
111endothelium development (GO:0003158)2.79763325
112protein localization to synapse (GO:0035418)2.79223551
113cellular response to interleukin-15 (GO:0071350)2.79179920
114behavioral response to cocaine (GO:0048148)2.78841543
115negative regulation of transcription regulatory region DNA binding (GO:2000678)2.75440467
116purine deoxyribonucleotide metabolic process (GO:0009151)2.74895184
117negative regulation of lymphocyte apoptotic process (GO:0070229)2.74511761
118* response to radiation (GO:0009314)2.74119987
119regulation of B cell receptor signaling pathway (GO:0050855)2.71852078
120positive regulation of alpha-beta T cell proliferation (GO:0046641)2.70946798
121thymic T cell selection (GO:0045061)2.70050048
122positive regulation of cyclase activity (GO:0031281)2.68128012
123regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.68002777
124positive regulation of interleukin-1 beta secretion (GO:0050718)2.66792779
125neutrophil activation involved in immune response (GO:0002283)2.66757076
126cellular response to electrical stimulus (GO:0071257)2.66682058
127negative regulation of cation channel activity (GO:2001258)2.66001958
1282-deoxyribonucleotide metabolic process (GO:0009394)2.65252851
129chaperone mediated protein folding requiring cofactor (GO:0051085)2.64954880
130response to interleukin-15 (GO:0070672)2.64578312
131purine-containing compound salvage (GO:0043101)2.64349818
132regulation of T cell mediated cytotoxicity (GO:0001914)2.64114442
133negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.63783937
134negative regulation of calcium ion transmembrane transport (GO:1903170)2.63783937
135regulation of alpha-beta T cell proliferation (GO:0046640)2.63113895
136terpenoid metabolic process (GO:0006721)2.61312014
137aggressive behavior (GO:0002118)2.61200484
138positive regulation of icosanoid secretion (GO:0032305)2.61061363
139negative regulation of thymocyte apoptotic process (GO:0070244)2.60311370
140dopamine receptor signaling pathway (GO:0007212)2.59561480
141retinol metabolic process (GO:0042572)2.59211133
142regulation of interleukin-1 beta secretion (GO:0050706)2.59096819
143regulation of neurotransmitter uptake (GO:0051580)2.58335476
144axoneme assembly (GO:0035082)2.57025820
145mast cell degranulation (GO:0043303)2.56501138
146mast cell activation involved in immune response (GO:0002279)2.56501138
147positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.56447346
148positive regulation of interleukin-4 production (GO:0032753)2.56249066
149regulation of antigen processing and presentation (GO:0002577)2.55726049
150lymph node development (GO:0048535)2.55093519
151positive regulation of T cell mediated cytotoxicity (GO:0001916)2.54852350
152regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.54686324
153regulation of catecholamine metabolic process (GO:0042069)2.54404712
154regulation of dopamine metabolic process (GO:0042053)2.54404712
155T cell selection (GO:0045058)2.54025943
156pyrimidine deoxyribonucleotide metabolic process (GO:0009219)2.53385364
157positive regulation of interleukin-1 secretion (GO:0050716)2.53097229
158regulation of interleukin-2 biosynthetic process (GO:0045076)2.52399445
159leukocyte degranulation (GO:0043299)2.52129478
160positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)2.50979414
161positive regulation of T cell mediated immunity (GO:0002711)2.50865001
162phospholipid translocation (GO:0045332)2.50376654
163lipid translocation (GO:0034204)2.50376654
164regulation of short-term neuronal synaptic plasticity (GO:0048172)2.50284253
165mature B cell differentiation involved in immune response (GO:0002313)2.49623412
166negative regulation of erythrocyte differentiation (GO:0045647)2.49471471
167positive regulation of T cell differentiation in thymus (GO:0033089)2.49290328
168negative regulation of innate immune response (GO:0045824)2.48368922
169post-embryonic morphogenesis (GO:0009886)2.48255090
170T cell migration (GO:0072678)2.47552947
171nucleotide salvage (GO:0043173)2.47203462
172positive regulation of lyase activity (GO:0051349)2.47169507
173peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.47157582
174* cellular response to abiotic stimulus (GO:0071214)2.35992779
175negative regulation of peptidyl-threonine phosphorylation (GO:0010801)2.34444027
176righting reflex (GO:0060013)2.32977450
177fatty acid derivative transport (GO:1901571)2.30854372
178icosanoid transport (GO:0071715)2.30854372
179positive regulation of membrane potential (GO:0045838)2.21072749
180sensory perception of smell (GO:0007608)2.18744612
181* regulation of rhodopsin mediated signaling pathway (GO:0022400)18.4234368
182retinal cone cell development (GO:0046549)17.9264620
183* rhodopsin mediated signaling pathway (GO:0016056)17.8583685
184photoreceptor cell development (GO:0042461)12.5725943
185eye photoreceptor cell development (GO:0042462)12.1862605
186photoreceptor cell maintenance (GO:0045494)11.9537730
187detection of light stimulus involved in visual perception (GO:0050908)11.7951459
188detection of light stimulus involved in sensory perception (GO:0050962)11.7951459
189positive regulation of guanylate cyclase activity (GO:0031284)11.6227662
190* phototransduction (GO:0007602)10.8583013
191* phototransduction, visible light (GO:0007603)10.6461493
192regulation of guanylate cyclase activity (GO:0031282)10.5526875
193protein-chromophore linkage (GO:0018298)10.4760951
194* detection of light stimulus (GO:0009583)10.2481941
195* detection of visible light (GO:0009584)10.2034787

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.97552296
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.61593176
3CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse5.10525876
4VDR_22108803_ChIP-Seq_LS180_Human4.94958317
5BP1_19119308_ChIP-ChIP_Hs578T_Human4.41246817
6GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse4.03239972
7ELF1_17652178_ChIP-ChIP_JURKAT_Human3.67169430
8HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.57970467
9DMRT1_21621532_ChIP-ChIP_FETAL_Ovary3.16413991
10IRF8_21731497_ChIP-ChIP_J774_Mouse3.02475333
11IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.83389474
12RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.68396510
13SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.64673504
14IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.62365284
15GBX2_23144817_ChIP-Seq_PC3_Human2.56754580
16LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.55894003
17MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.53621212
18SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.43643876
19SCL_19346495_ChIP-Seq_HPC-7_Human2.43021792
20CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.39684092
21STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.31870600
22KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.23040159
23GATA1_22025678_ChIP-Seq_K562_Human2.21045450
24SPI1_23547873_ChIP-Seq_NB4_Human2.17613801
25DROSHA_22980978_ChIP-Seq_HELA_Human2.17385533
26FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.13439355
27MYB_26560356_Chip-Seq_TH2_Human2.12562211
28NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.11720985
29STAT4_19710469_ChIP-ChIP_TH1__Mouse2.07898038
30RUNX_20019798_ChIP-Seq_JUKART_Human1.99482760
31TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.98457304
32LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.96478676
33SMAD3_21741376_ChIP-Seq_HESCs_Human1.92110299
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.90311760
35JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.89817943
36UTX_26944678_Chip-Seq_JUKART_Human1.88313479
37IGF1R_20145208_ChIP-Seq_DFB_Human1.86482009
38CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.85017236
39CIITA_25753668_ChIP-Seq_RAJI_Human1.83643358
40MYB_26560356_Chip-Seq_TH1_Human1.80814381
41BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.78762565
42MAF_26560356_Chip-Seq_TH1_Human1.78359623
43MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.77988604
44E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.76552509
45GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.75796985
46EST1_17652178_ChIP-ChIP_JURKAT_Human1.73110952
47EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.72454271
48VDR_21846776_ChIP-Seq_THP-1_Human1.70038592
49HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.68938560
50POU3F2_20337985_ChIP-ChIP_501MEL_Human1.68238824
51VDR_23849224_ChIP-Seq_CD4+_Human1.66671855
52CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.65039478
53GATA3_26560356_Chip-Seq_TH2_Human1.63784207
54ELF1_20517297_ChIP-Seq_JURKAT_Human1.62372768
55SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.59984636
56AR_21572438_ChIP-Seq_LNCaP_Human1.59670970
57SRF_21415370_ChIP-Seq_HL-1_Mouse1.59602830
58VDR_24763502_ChIP-Seq_THP-1_Human1.59110930
59FOXP3_21729870_ChIP-Seq_TREG_Human1.59057196
60BCL6_27268052_Chip-Seq_Bcells_Human1.58215846
61GATA3_27048872_Chip-Seq_THYMUS_Human1.57900096
62ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.54697553
63EZH2_27294783_Chip-Seq_ESCs_Mouse1.54673824
64SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.54243331
65MYC_22102868_ChIP-Seq_BL_Human1.53347003
66EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.51878187
67SUZ12_27294783_Chip-Seq_ESCs_Mouse1.51433541
68TCF4_18268006_ChIP-ChIP_LS174T_Human1.50977918
69REST_18959480_ChIP-ChIP_MESCs_Mouse1.50769895
70ETS1_20019798_ChIP-Seq_JURKAT_Human1.49944746
71IRF8_27001747_Chip-Seq_BMDM_Mouse1.48763584
72REST_21632747_ChIP-Seq_MESCs_Mouse1.48156317
73SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.48156220
74KDM2B_26808549_Chip-Seq_K562_Human1.48045732
75P53_22127205_ChIP-Seq_FIBROBLAST_Human1.47203363
76GABP_17652178_ChIP-ChIP_JURKAT_Human1.46865190
77CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.46559543
78HOXB4_20404135_ChIP-ChIP_EML_Mouse1.45698003
79RING1B_27294783_Chip-Seq_NPCs_Mouse1.45683094
80MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.43799792
81AR_19668381_ChIP-Seq_PC3_Human1.42080654
82FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.40939419
83SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.40858607
84MAF_26560356_Chip-Seq_TH2_Human1.39334204
85GATA2_22383799_ChIP-Seq_G1ME_Mouse1.37673416
86* NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.36986878
87NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.36682548
88RUNX1_22412390_ChIP-Seq_EML_Mouse1.36217287
89PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.35191949
90TBL1_22424771_ChIP-Seq_293T_Human1.34142349
91BCOR_27268052_Chip-Seq_Bcells_Human1.32544946
92TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.32322707
93SMC4_20622854_ChIP-Seq_HELA_Human1.30208818
94CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.29429067
95WDR5_24793694_ChIP-Seq_LNCAP_Human1.28735393
96EGR1_23403033_ChIP-Seq_LIVER_Mouse1.28074433
97P300_27268052_Chip-Seq_Bcells_Human1.26966678
98IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25054931
99FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.25051513
100MTF2_20144788_ChIP-Seq_MESCs_Mouse1.24877163
101ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.23658135
102CTCF_27219007_Chip-Seq_Bcells_Human1.23457226
103NCOR_22424771_ChIP-Seq_293T_Human1.23006001
104* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.21356372
105TAF2_19829295_ChIP-Seq_ESCs_Human1.19925035
106RARB_27405468_Chip-Seq_BRAIN_Mouse1.18940949
107FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18912995
108RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.17671155
109SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.16710122
110CTCF_20526341_ChIP-Seq_ESCs_Human1.15997943
111CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.14992150
112YY1_21170310_ChIP-Seq_MESCs_Mouse1.14959606
113SPI1_20517297_ChIP-Seq_HL60_Human1.14927814
114EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.14651393
115NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.14016747
116BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.13249050
117LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.12874286
118HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.12657891
119PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.12105741
120FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.12044188
121PRDM14_20953172_ChIP-Seq_ESCs_Human1.11847555
122EGR1_19374776_ChIP-ChIP_THP-1_Human1.11461739
123ERG_20887958_ChIP-Seq_HPC-7_Mouse1.11062209
124CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.10638199
125SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.10526518
126PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.10406907
127EGR1_19032775_ChIP-ChIP_M12_Human1.10101613
128SPI1_23127762_ChIP-Seq_K562_Human1.09893506
129GF1_26923725_Chip-Seq_HPCs_Mouse1.09838852
130YY1_22570637_ChIP-Seq_MALME-3M_Human1.09811137
131PU.1_20513432_ChIP-Seq_Bcells_Mouse1.09519596
132BCAT_22108803_ChIP-Seq_LS180_Human1.09514266
133SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.08936061
134CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08850103
135SMAD4_21799915_ChIP-Seq_A2780_Human1.08819007
136MYB_21317192_ChIP-Seq_ERMYB_Mouse1.08538423
137OCT4_19829295_ChIP-Seq_ESCs_Human1.08332147
138TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08183980
139JARID2_20075857_ChIP-Seq_MESCs_Mouse1.08107839
140MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.08028580
141TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.07697635
142RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.07386618
143NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.06506946
144CTCF_21964334_ChIP-Seq_BJAB-B_Human1.06343892
145P68_20966046_ChIP-Seq_HELA_Human1.05524617
146ERG_21242973_ChIP-ChIP_JURKAT_Human1.05395195
147CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.05252498
148ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.04944236
149NANOG_20526341_ChIP-Seq_ESCs_Human1.04670265
150SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.04562112
151PHF8_20622854_ChIP-Seq_HELA_Human1.03896847
152CTCF_26484167_Chip-Seq_Bcells_Mouse1.03551994
153CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.03394116
154EZH2_27304074_Chip-Seq_ESCs_Mouse1.03298824
155DPY_21335234_ChIP-Seq_ESCs_Mouse1.03102281
156EP300_21415370_ChIP-Seq_HL-1_Mouse1.02969324
157CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.02669848
158OCT1_27270436_Chip-Seq_PROSTATE_Human1.02244364
159GATA1_19941826_ChIP-Seq_K562_Human1.01749867
160STAT1_20625510_ChIP-Seq_HELA_Human1.01451928
161* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.00810181
162STAT3_23295773_ChIP-Seq_U87_Human1.00155670
163BRD4_27068464_Chip-Seq_AML-cells_Mouse0.99431853
164CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99341781
165RNF2_27304074_Chip-Seq_ESCs_Mouse0.99194474
166EZH2_18974828_ChIP-Seq_MESCs_Mouse0.98187133
167RNF2_18974828_ChIP-Seq_MESCs_Mouse0.98187133
168GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.97631589
169CBP_21632823_ChIP-Seq_H3396_Human0.97273301
170ERG_20517297_ChIP-Seq_VCAP_Human0.96657052
171SA1_27219007_Chip-Seq_Bcells_Human0.96638825
172SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95221669
173GATA1_26923725_Chip-Seq_HPCs_Mouse0.95206970
174EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.94698287
175VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.94460222
176ISL1_27105846_Chip-Seq_CPCs_Mouse0.93900043
177NANOG_18555785_Chip-Seq_ESCs_Mouse0.93416145
178CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93395787
179TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.92471154
180P300_19829295_ChIP-Seq_ESCs_Human0.91233123
181GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.88694073
182MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.88616870
183E2F1_20622854_ChIP-Seq_HELA_Human0.87083251
184FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.86305060
185PHF8_20622853_ChIP-Seq_HELA_Human0.85332516
186GF1B_26923725_Chip-Seq_HPCs_Mouse0.85154349
187LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84428640
188* CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.84054564
189GATA1_19941827_ChIP-Seq_MEL_Mouse0.83768733
190SMAD4_21741376_ChIP-Seq_ESCs_Human0.83756793
191ELK4_26923725_Chip-Seq_MESODERM_Mouse0.83654693
192SMAD4_21741376_ChIP-Seq_HESCs_Human0.83397995
193GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.83057532
194* CREB1_26743006_Chip-Seq_LNCaP_Human0.82618241

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005551_abnormal_eye_electrophysiolog9.87822047
2MP0005253_abnormal_eye_physiology7.09712919
3MP0006072_abnormal_retinal_apoptosis6.62390332
4MP0003950_abnormal_plasma_membrane4.12272615
5MP0003724_increased_susceptibility_to3.83537374
6* MP0005195_abnormal_posterior_eye3.81753936
7MP0001835_abnormal_antigen_presentation3.61282279
8MP0001324_abnormal_eye_pigmentation3.47094145
9MP0005391_vision/eye_phenotype3.44696425
10MP0005671_abnormal_response_to3.22941241
11MP0000685_abnormal_immune_system2.94945713
12MP0005423_abnormal_somatic_nervous2.94842066
13MP0002090_abnormal_vision2.92363309
14MP0003436_decreased_susceptibility_to2.88863091
15MP0002148_abnormal_hypersensitivity_rea2.86110059
16MP0001986_abnormal_taste_sensitivity2.82158732
17MP0002638_abnormal_pupillary_reflex2.75166133
18MP0005000_abnormal_immune_tolerance2.69141228
19MP0002229_neurodegeneration2.59259026
20MP0005464_abnormal_platelet_physiology2.48931687
21MP0001800_abnormal_humoral_immune2.36668414
22MP0002723_abnormal_immune_serum2.26419122
23MP0003806_abnormal_nucleotide_metabolis2.23956551
24MP0002420_abnormal_adaptive_immunity2.22382536
25MP0001819_abnormal_immune_cell2.19402056
26MP0002452_abnormal_antigen_presenting2.13701377
27MP0002419_abnormal_innate_immunity2.12520414
28MP0001764_abnormal_homeostasis2.11612988
29MP0005025_abnormal_response_to2.11252316
30MP0005387_immune_system_phenotype2.10672969
31MP0001790_abnormal_immune_system2.10672969
32MP0002398_abnormal_bone_marrow2.05141401
33MP0009333_abnormal_splenocyte_physiolog2.01715351
34MP0003011_delayed_dark_adaptation10.8747088
35MP0003763_abnormal_thymus_physiology1.95485480
36* MP0002752_abnormal_somatic_nervous1.90917191
37MP0009785_altered_susceptibility_to1.83722341
38MP0000716_abnormal_immune_system1.83188125
39MP0000689_abnormal_spleen_morphology1.68623111
40MP0005397_hematopoietic_system_phenotyp1.65439590
41MP0001545_abnormal_hematopoietic_system1.65439590
42MP0005075_abnormal_melanosome_morpholog1.62708435
43MP0003191_abnormal_cellular_cholesterol1.62090095
44MP0002429_abnormal_blood_cell1.58689971
45MP0002722_abnormal_immune_system1.55792306
46MP0002405_respiratory_system_inflammati1.53443097
47MP0004147_increased_porphyrin_level1.50667856
48MP0001533_abnormal_skeleton_physiology1.50584445
49MP0004019_abnormal_vitamin_homeostasis1.48729066
50MP0003866_abnormal_defecation1.48202768
51MP0010155_abnormal_intestine_physiology1.47409208
52MP0003878_abnormal_ear_physiology1.45568109
53MP0005377_hearing/vestibular/ear_phenot1.45568109
54MP0009278_abnormal_bone_marrow1.42757759
55MP0002653_abnormal_ependyma_morphology1.42025665
56MP0009764_decreased_sensitivity_to1.37395844
57MP0005058_abnormal_lysosome_morphology1.33803495
58MP0001845_abnormal_inflammatory_respons1.33612527
59* MP0002882_abnormal_neuron_morphology1.32298197
60MP0009840_abnormal_foam_cell1.30784047
61MP0003303_peritoneal_inflammation1.24025762
62MP0000703_abnormal_thymus_morphology1.23451644
63MP0002166_altered_tumor_susceptibility1.22464439
64MP0004233_abnormal_muscle_weight1.15897940
65MP0005645_abnormal_hypothalamus_physiol1.12717808
66MP0008469_abnormal_protein_level1.08782868
67MP0001984_abnormal_olfaction1.02931187
68MP0002138_abnormal_hepatobiliary_system1.00784858
69MP0005197_abnormal_uvea_morphology0.99798080
70MP0001853_heart_inflammation0.98754009
71MP0005174_abnormal_tail_pigmentation0.97198978
72MP0006292_abnormal_olfactory_placode0.96051497
73MP0008872_abnormal_physiological_respon0.95363418
74MP0002006_tumorigenesis0.93973530
75MP0004947_skin_inflammation0.93735021
76MP0002332_abnormal_exercise_endurance0.92751395
77MP0001502_abnormal_circadian_rhythm0.91802525
78MP0006036_abnormal_mitochondrial_physio0.91501790
79MP0002127_abnormal_cardiovascular_syste0.89965349
80MP0004885_abnormal_endolymph0.89138567
81MP0005410_abnormal_fertilization0.88869977
82MP0003075_altered_response_to0.86007079
83MP0002396_abnormal_hematopoietic_system0.85276906
84MP0003172_abnormal_lysosome_physiology0.85086502
85MP0002019_abnormal_tumor_incidence0.84155607
86MP0008875_abnormal_xenobiotic_pharmacok0.79224379
87MP0005499_abnormal_olfactory_system0.79081053
88MP0005394_taste/olfaction_phenotype0.79081053
89MP0006082_CNS_inflammation0.79001565
90MP0009763_increased_sensitivity_to0.78790031
91MP0002132_abnormal_respiratory_system0.78721458
92MP0005390_skeleton_phenotype0.78343807
93MP0001486_abnormal_startle_reflex0.77815878
94MP0002933_joint_inflammation0.73940712
95MP0001881_abnormal_mammary_gland0.72333984
96MP0008789_abnormal_olfactory_epithelium0.71090974
97MP0009765_abnormal_xenobiotic_induced0.69400928
98MP0004270_analgesia0.69167987
99MP0003828_pulmonary_edema0.68034769
100MP0003634_abnormal_glial_cell0.67625768
101MP0002272_abnormal_nervous_system0.67350420
102MP0001663_abnormal_digestive_system0.66261972
103MP0002998_abnormal_bone_remodeling0.66124557
104MP0005165_increased_susceptibility_to0.65101016
105MP0004808_abnormal_hematopoietic_stem0.63741206
106MP0002095_abnormal_skin_pigmentation0.62621044
107MP0005187_abnormal_penis_morphology0.61357759
108MP0000372_irregular_coat_pigmentation0.60683371
109MP0008260_abnormal_autophagy0.60679402
110MP0001286_abnormal_eye_development0.59681448
111MP0009643_abnormal_urine_homeostasis0.57398828
112MP0000465_gastrointestinal_hemorrhage0.56846230
113MP0005535_abnormal_body_temperature0.56697580
114MP0001963_abnormal_hearing_physiology0.54451709
115MP0005166_decreased_susceptibility_to0.54445797
116MP0005167_abnormal_blood-brain_barrier0.53391497
117MP0000358_abnormal_cell_content/0.51826276
118MP0005636_abnormal_mineral_homeostasis0.48186707
119MP0002734_abnormal_mechanical_nocicepti0.47594226
120MP0005376_homeostasis/metabolism_phenot0.47150230
121MP0008004_abnormal_stomach_pH0.47027508
122MP0003880_abnormal_central_pattern0.42971246
123MP0003045_fibrosis0.38808932
124MP0002064_seizures0.37874747
125MP0008058_abnormal_DNA_repair0.37780010
126MP0009046_muscle_twitch0.36755264
127MP0002572_abnormal_emotion/affect_behav0.35922030
128MP0004145_abnormal_muscle_electrophysio0.33272623
129MP0002067_abnormal_sensory_capabilities0.33112187
130MP0001905_abnormal_dopamine_level0.33095792
131MP0004782_abnormal_surfactant_physiolog0.32981050
132MP0004142_abnormal_muscle_tone0.32092848
133MP0000631_abnormal_neuroendocrine_gland0.31134883
134MP0000026_abnormal_inner_ear0.31093331
135MP0001661_extended_life_span0.31059005
136MP0003635_abnormal_synaptic_transmissio0.30484675
137MP0004924_abnormal_behavior0.29179955
138MP0005386_behavior/neurological_phenoty0.29179955
139MP0002063_abnormal_learning/memory/cond0.28903382
140MP0004742_abnormal_vestibular_system0.28758024
141MP0003646_muscle_fatigue0.27648205
142MP0001968_abnormal_touch/_nociception0.27117956
143MP0005620_abnormal_muscle_contractility0.26629503
144MP0010386_abnormal_urinary_bladder0.25325994
145MP0003890_abnormal_embryonic-extraembry0.25284639
146MP0009745_abnormal_behavioral_response0.24397493
147MP0004215_abnormal_myocardial_fiber0.23677441
148MP0004085_abnormal_heartbeat0.23601186
149MP0005076_abnormal_cell_differentiation0.23359826
150MP0004859_abnormal_synaptic_plasticity0.22942821
151MP0005595_abnormal_vascular_smooth0.22096060
152MP0003638_abnormal_response/metabolism_0.20784401
153MP0005646_abnormal_pituitary_gland0.20707430
154MP0002102_abnormal_ear_morphology0.18762056
155MP0002108_abnormal_muscle_morphology0.18113040
156MP0005193_abnormal_anterior_eye0.17333579
157MP0002152_abnormal_brain_morphology0.16698383
158MP0001915_intracranial_hemorrhage0.16655261
159MP0002066_abnormal_motor_capabilities/c0.15429354
160MP0004043_abnormal_pH_regulation0.14234995
161MP0005330_cardiomyopathy0.13237086
162MP0001188_hyperpigmentation0.12948604
163MP0010030_abnormal_orbit_morphology0.12163201
164MP0002697_abnormal_eye_size0.11796094
165MP0005248_abnormal_Harderian_gland0.10481227
166MP0003943_abnormal_hepatobiliary_system0.10367903
167MP0008569_lethality_at_weaning0.10267887
168MP0005266_abnormal_metabolism0.10114276
169MP0005084_abnormal_gallbladder_morpholo0.09933186
170MP0000001_mammalian_phenotype0.09856548
171MP0005310_abnormal_salivary_gland0.09481186
172MP0002168_other_aberrant_phenotype0.09477498
173MP0004811_abnormal_neuron_physiology0.09362576
174MP0002184_abnormal_innervation0.08726918
175MP0003632_abnormal_nervous_system0.08404180
176MP0003252_abnormal_bile_duct0.07955462
177MP0002928_abnormal_bile_duct0.07642102
178MP0000751_myopathy0.07365721
179MP0001614_abnormal_blood_vessel0.07293168
180MP0002557_abnormal_social/conspecific_i0.07056361
181MP0000749_muscle_degeneration0.05801527

Predicted human phenotypes

RankGene SetZ-score
1Pigmentary retinal degeneration (HP:0001146)9.56845400
2Chorioretinal atrophy (HP:0000533)8.20772532
3Abnormality of macular pigmentation (HP:0008002)8.16542492
4Central scotoma (HP:0000603)8.16438134
5Pendular nystagmus (HP:0012043)7.62885548
6Scotoma (HP:0000575)7.33162768
7* Attenuation of retinal blood vessels (HP:0007843)6.62267983
8Decreased central vision (HP:0007663)6.58095922
9Abolished electroretinogram (ERG) (HP:0000550)6.38386805
10* Photophobia (HP:0000613)5.84811744
11* Type II diabetes mellitus (HP:0005978)5.50360093
12Vitreoretinal degeneration (HP:0000655)5.43578314
13Macular degeneration (HP:0000608)5.16000352
14Severe visual impairment (HP:0001141)4.74916062
15Choroideremia (HP:0001139)4.72671277
16Posterior subcapsular cataract (HP:0007787)4.72325878
17Keratoconus (HP:0000563)4.61885112
18Increased corneal curvature (HP:0100692)4.61885112
19Cone-rod dystrophy (HP:0000548)4.57900762
20Retinitis pigmentosa (HP:0000510)4.49587169
21Constricted visual fields (HP:0001133)4.19018169
22Agammaglobulinemia (HP:0004432)3.97768468
23Decreased electroretinogram (ERG) amplitude (HP:0000654)3.57620728
24Abnormality of B cell number (HP:0010975)3.36509653
25Panhypogammaglobulinemia (HP:0003139)3.36079229
26Severe combined immunodeficiency (HP:0004430)3.34633017
27Myositis (HP:0100614)3.10112407
28Progressive visual loss (HP:0000529)3.02909337
29Abnormality of the prostate (HP:0008775)3.00514493
30Lipid accumulation in hepatocytes (HP:0006561)2.92317757
313-Methylglutaconic aciduria (HP:0003535)2.89910944
32B lymphocytopenia (HP:0010976)2.89630482
33Combined immunodeficiency (HP:0005387)2.88465905
34Subcapsular cataract (HP:0000523)2.86222617
35Stomatitis (HP:0010280)2.85998513
36Autoimmune thrombocytopenia (HP:0001973)2.83746535
37Abnormal number of erythroid precursors (HP:0012131)2.83452551
38Recurrent fungal infections (HP:0002841)2.82368901
39Retinal atrophy (HP:0001105)2.80854153
40Chronic otitis media (HP:0000389)2.77267527
41Abnormality of the heme biosynthetic pathway (HP:0010472)2.75744290
42Increased neuronal autofluorescent lipopigment (HP:0002074)2.74663460
43Elevated erythrocyte sedimentation rate (HP:0003565)2.74174533
44Prolonged bleeding time (HP:0003010)2.72682173
45Meningitis (HP:0001287)2.72415390
46Petechiae (HP:0000967)2.72311994
47Increased IgM level (HP:0003496)2.70603133
48Recurrent viral infections (HP:0004429)2.70134693
49Congenital sensorineural hearing impairment (HP:0008527)2.70114211
50Abnormality of T cell number (HP:0011839)2.69564082
51T lymphocytopenia (HP:0005403)2.69444608
52Dry hair (HP:0011359)2.68318760
53Abnormality of T cells (HP:0002843)2.66204812
54Increased muscle lipid content (HP:0009058)2.64945083
55Recurrent cutaneous fungal infections (HP:0011370)2.63066725
56Chronic mucocutaneous candidiasis (HP:0002728)2.63066725
57IgG deficiency (HP:0004315)2.60186285
58Retrobulbar optic neuritis (HP:0100654)2.58874748
59Optic neuritis (HP:0100653)2.58874748
60Gait imbalance (HP:0002141)2.53498692
61Congenital primary aphakia (HP:0007707)2.52215670
62Abnormality of eosinophils (HP:0001879)2.49459747
63Encephalitis (HP:0002383)2.47139373
64Orchitis (HP:0100796)2.46745958
65Abnormal delayed hypersensitivity skin test (HP:0002963)2.45838390
66Increased cerebral lipofuscin (HP:0011813)2.45221939
67Granulocytopenia (HP:0001913)2.44265611
68* Wide nasal bridge (HP:0000431)2.43766988
69Thyroiditis (HP:0100646)2.42177622
70Abnormality of iron homeostasis (HP:0011031)2.41415652
71Abnormality of cells of the erythroid lineage (HP:0012130)2.40976416
72Increased hepatocellular lipid droplets (HP:0006565)2.39721388
73Pulmonary infiltrates (HP:0002113)2.36852400
74Prostate neoplasm (HP:0100787)2.36522739
75Autoimmune hemolytic anemia (HP:0001890)2.35627453
76Epistaxis (HP:0000421)2.35460734
77Dicarboxylic aciduria (HP:0003215)2.35075532
78Abnormality of dicarboxylic acid metabolism (HP:0010995)2.35075532
79Recurrent abscess formation (HP:0002722)2.34729981
80Premature loss of primary teeth (HP:0006323)2.32287381
81Increased serum ferritin (HP:0003281)2.31697546
82Increased intramyocellular lipid droplets (HP:0012240)2.31419607
83Dysostosis multiplex (HP:0000943)2.31411897
84Eosinophilia (HP:0001880)2.30985369
85Abnormality of T cell physiology (HP:0011840)2.29330903
86Abnormality of transition element cation homeostasis (HP:0011030)2.29231565
87* Optic disc pallor (HP:0000543)2.28098281
88Mitochondrial inheritance (HP:0001427)2.27803268
89Leukocytosis (HP:0001974)2.25090156
90Nephrogenic diabetes insipidus (HP:0009806)2.23993090
91Type I transferrin isoform profile (HP:0003642)2.21828584
92Abnormality of polysaccharide metabolism (HP:0011012)2.21606900
93Abnormality of glycosaminoglycan metabolism (HP:0004371)2.21606900
94Abnormality of mucopolysaccharide metabolism (HP:0011020)2.21606900
95Abnormality of liposaccharide metabolism (HP:0010968)2.21054336
96Abnormality of glycosphingolipid metabolism (HP:0004343)2.21054336
97Abnormality of glycolipid metabolism (HP:0010969)2.21054336
98Medial flaring of the eyebrow (HP:0010747)2.19189771
99Recurrent bacterial skin infections (HP:0005406)2.18154363
100Increased density of long bones (HP:0006392)2.14916873
101Mediastinal lymphadenopathy (HP:0100721)2.14254754
102Recurrent skin infections (HP:0001581)2.14124474
103Recurrent bronchitis (HP:0002837)2.13075328
104Hepatocellular necrosis (HP:0001404)2.12881568
105Aplastic anemia (HP:0001915)2.12763043
106Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.11808062
107Pallor (HP:0000980)2.11389033
108Obstructive lung disease (HP:0006536)2.10294187
109Chronic obstructive pulmonary disease (HP:0006510)2.10294187
110Hepatic necrosis (HP:0002605)2.09210678
111Spastic paraparesis (HP:0002313)2.06784575
112Hepatosplenomegaly (HP:0001433)2.04625683
113Increased CSF lactate (HP:0002490)2.04133878
114Vasculitis (HP:0002633)2.02133565
115Abnormality of pyrimidine metabolism (HP:0004353)2.01572437
116IgM deficiency (HP:0002850)2.01283912
117Acute encephalopathy (HP:0006846)2.01282104
118Cellulitis (HP:0100658)2.00300936
119Congenital stationary night blindness (HP:0007642)15.5947336
120Bony spicule pigmentary retinopathy (HP:0007737)11.7611552
121Absent rod-and cone-mediated responses on ERG (HP:0007688)10.5066797
122Dyschromatopsia (HP:0007641)10.3009010
123Abnormal rod and cone electroretinograms (HP:0008323)10.0085861
124Poor coordination (HP:0002370)1.93897935
125Vaginal atresia (HP:0000148)1.72650525
126Horizontal nystagmus (HP:0000666)1.67254480
127Genital tract atresia (HP:0001827)1.65339973
128True hermaphroditism (HP:0010459)1.62112576
129* Optic atrophy (HP:0000648)1.58623408
130Polar cataract (HP:0010696)1.52185302
131Aplasia/Hypoplasia of the lens (HP:0008063)1.42750369
132Interstitial pulmonary disease (HP:0006530)1.42736498
133Severe Myopia (HP:0011003)1.40161308
134Pancreatic fibrosis (HP:0100732)1.31060213
135Dysdiadochokinesis (HP:0002075)1.25832015
136Astigmatism (HP:0000483)1.18505143
137Retinal detachment (HP:0000541)1.17289242
138Epileptic encephalopathy (HP:0200134)1.09415445
139Pancreatic cysts (HP:0001737)1.08195573
140Broad foot (HP:0001769)1.07754441
141Aplasia/Hypoplasia of the fovea (HP:0008060)1.05547123
142Hypoplasia of the fovea (HP:0007750)1.05547123
143Febrile seizures (HP:0002373)1.05504083
144Abnormality of the fovea (HP:0000493)1.04763112
145Cystic liver disease (HP:0006706)1.00793594
146Left ventricular hypertrophy (HP:0001712)0.99976839
147Decreased testicular size (HP:0008734)0.97752879
148Recurrent sinusitis (HP:0011108)0.97735309
149Specific learning disability (HP:0001328)0.97293271
150Asthma (HP:0002099)0.94381153
151Chorioretinal coloboma (HP:0000567)0.93134118
152Cerebellar dysplasia (HP:0007033)0.91917246
153Progressive cerebellar ataxia (HP:0002073)0.90692885
154Truncal ataxia (HP:0002078)0.86440903
155Aplasia/Hypoplasia of the tongue (HP:0010295)0.86092954
156Sclerocornea (HP:0000647)0.84264427
157Abnormality of dental color (HP:0011073)0.84110424
158Hypermetropia (HP:0000540)0.79164057
159Aplasia/Hypoplasia of the macula (HP:0008059)0.77673954
160Abnormality of midbrain morphology (HP:0002418)0.76954176
161Molar tooth sign on MRI (HP:0002419)0.76954176
162Dental crowding (HP:0000678)0.71039732
163Genetic anticipation (HP:0003743)0.70360413
164Partial agenesis of the corpus callosum (HP:0001338)0.69876201
165Anencephaly (HP:0002323)0.69800327
166Postaxial hand polydactyly (HP:0001162)0.67799454
167Aplasia/Hypoplasia affecting the retina (HP:0008061)0.67793858
168Short foot (HP:0001773)0.67565123
169Chronic hepatic failure (HP:0100626)0.67491350
170Furrowed tongue (HP:0000221)0.67037678
171Hypodontia (HP:0000668)0.66868342
172Lymphopenia (HP:0001888)0.65424865
173Broad-based gait (HP:0002136)0.64974196
174Congenital hepatic fibrosis (HP:0002612)0.61348816
175Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)0.61313656
176Osteomalacia (HP:0002749)0.60995038
177Nephronophthisis (HP:0000090)0.60876389
178Aqueductal stenosis (HP:0002410)0.60619935
179Prolonged QT interval (HP:0001657)0.60386473
180Polycystic ovaries (HP:0000147)0.59319755
181Abnormality of cells of the lymphoid lineage (HP:0012140)0.58935552
182Nephrotic syndrome (HP:0000100)0.58882634
183Corneal dystrophy (HP:0001131)0.57246859
184Anal stenosis (HP:0002025)0.55273852
185Male pseudohermaphroditism (HP:0000037)0.54563055
186Prominent nasal bridge (HP:0000426)0.54001085

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK7.84837314
2BCKDK4.53475832
3MAP4K14.00899628
4TESK23.77783122
5KDR3.10151721
6PINK12.92300252
7IRAK22.86053174
8VRK22.51360702
9MAP3K142.37486517
10KIT2.32999800
11INSRR2.29003874
12TLK12.25432240
13TXK2.03404637
14GRK111.0038813
15GRK61.97452221
16SYK1.86265581
17CCNB11.85624490
18CSF1R1.84409431
19MAPK71.84062426
20PIM21.72228731
21TEC1.57932125
22BTK1.57422823
23MARK11.54360830
24IKBKB1.53723761
25NUAK11.52431569
26MAP2K21.51208143
27NME21.50953744
28TBK11.49346595
29ICK1.47296289
30PNCK1.43722341
31RPS6KA41.40299187
32CAMK1G1.38942916
33TAOK31.36668444
34SIK21.36376429
35MAP3K111.36149541
36SCYL21.36086023
37RIPK41.34452338
38BMPR21.33190365
39MAPK121.32481527
40BRD41.32297712
41BLK1.32034339
42PRKCQ1.31328100
43MATK1.30676740
44ITK1.28725073
45MAP3K121.27769656
46JAK31.27304749
47TAOK21.26630555
48TTK1.26334789
49CDK121.22862164
50AKT31.20786246
51LYN1.20580474
52CAMK1D1.18844384
53MAP3K131.18674484
54DAPK11.16812229
55MAPKAPK31.13623011
56ZAP701.12655703
57STK381.10585176
58HIPK21.10137814
59LCK1.09688372
60IKBKE1.08822145
61PRKCZ1.03047001
62CDK30.99824440
63VRK10.99016299
64IRAK40.98778508
65SGK2230.96844096
66SGK4940.96844096
67FLT30.95322643
68CSNK1D0.94749602
69MAP3K100.92807919
70MAP4K20.91906885
71MAPKAPK50.90984958
72MARK30.89494125
73TESK10.88445002
74ERN10.88124791
75PIM10.86329256
76PIK3CG0.85124407
77ADRBK20.83776791
78HCK0.80621921
79ACVR1B0.79854517
80NEK60.78056652
81NEK20.75243752
82SGK20.75020436
83MAP3K40.74272037
84ERBB20.73853835
85MYLK0.73351612
86CHEK20.70709537
87CAMK2D0.69003534
88SMG10.68046989
89DAPK20.67602481
90TIE10.65746646
91STK160.65591273
92IRAK10.64858300
93PAK60.62185047
94PHKG10.62097573
95PHKG20.62097573
96PRKCB0.61124348
97ZAK0.61088518
98LATS10.60580306
99MAP3K50.60419996
100SGK30.60230484
101TYK20.60118532
102PRKAA10.57666571
103PRKACG0.57514407
104MKNK20.57489550
105DYRK20.57387387
106CSK0.56812493
107PRKD20.56390665
108PRKCH0.56249266
109PLK30.56056543
110PRKD30.56002143
111WNK10.54168003
112DYRK1A0.53758403
113YES10.53420698
114JAK10.52748662
115PRKAA20.51869363
116CDK40.51627770
117MKNK10.51340956
118RPS6KA50.51072394
119PLK40.50982756
120LIMK10.50889960
121CAMK10.48043109
122TAF10.47360951
123AKT20.47119471
124RPS6KA30.46874782
125LRRK20.46616985
126PLK20.45949919
127MAP2K70.45145117
128ARAF0.44597802
129PRKDC0.44550794
130CLK10.43009624
131FES0.41562048
132GSK3B0.40353977
133CAMK2A0.39582867
134GRK50.39005284
135NEK10.38921120
136MAPK140.38793356
137EIF2AK20.38133792
138MAPK90.38105488
139CASK0.37295777
140CAMKK20.36890055
141GRK70.36349384
142SGK10.35834840
143DYRK1B0.35142243
144PKN10.34844389
145DAPK30.34491646
146CDK10.34490251
147STK100.34472354
148PRKCG0.34014413
149CDK90.33232659
150CAMKK10.33067367
151PRKACA0.32254529
152ATR0.32149944
153IGF1R0.31708479
154MAPK100.31363409
155MST40.31101528
156FYN0.30677927
157CAMK40.30326245
158PDK10.30017098
159CDC42BPA0.28716796
160ABL10.28565560
161CHEK10.27617440
162RPS6KB10.26898510
163RAF10.26756652
164MAPK110.26589354
165ATM0.26092573
166MAP2K30.25880923
167CDK50.25214227
168PRPF4B0.24579148
169RPS6KA60.24313934
170CHUK0.24180854
171PRKD10.23792112
172PRKCD0.23638327
173PRKCA0.22718800
174CSNK1E0.21160897
175STK110.19267855
176CDK20.17741246
177TNK20.16439223
178PLK10.16310009
179MAPK80.15126629
180RPS6KB20.14649518
181CDK70.14620934
182PRKCI0.12440505
183PDK20.11826404
184ALK0.10855557
185AKT10.10331690

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053403.60501027
2Allograft rejection_Homo sapiens_hsa053303.14681524
3Asthma_Homo sapiens_hsa053103.11942896
4Intestinal immune network for IgA production_Homo sapiens_hsa046723.03818340
5Graft-versus-host disease_Homo sapiens_hsa053322.93805612
6Autoimmune thyroid disease_Homo sapiens_hsa053202.85223072
7Type I diabetes mellitus_Homo sapiens_hsa049402.39983514
8Staphylococcus aureus infection_Homo sapiens_hsa051502.16528807
9NF-kappa B signaling pathway_Homo sapiens_hsa040642.07506329
10Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.01427723
11Antigen processing and presentation_Homo sapiens_hsa046122.01398609
12* Phototransduction_Homo sapiens_hsa0474416.3510605
13Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.99906700
14Leishmaniasis_Homo sapiens_hsa051401.98621044
15Hematopoietic cell lineage_Homo sapiens_hsa046401.87633426
16Glycosaminoglycan degradation_Homo sapiens_hsa005311.75914388
17Proteasome_Homo sapiens_hsa030501.72189657
18NOD-like receptor signaling pathway_Homo sapiens_hsa046211.69774670
19Rheumatoid arthritis_Homo sapiens_hsa053231.67226651
20Ribosome_Homo sapiens_hsa030101.57481495
21Viral myocarditis_Homo sapiens_hsa054161.46871135
22Synaptic vesicle cycle_Homo sapiens_hsa047211.36379894
23Olfactory transduction_Homo sapiens_hsa047401.35960007
24Herpes simplex infection_Homo sapiens_hsa051681.34982539
25RNA polymerase_Homo sapiens_hsa030201.32503424
26Homologous recombination_Homo sapiens_hsa034401.23225509
27Malaria_Homo sapiens_hsa051441.22996633
28DNA replication_Homo sapiens_hsa030301.21711021
29Mismatch repair_Homo sapiens_hsa034301.16721721
30Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.15523873
31Arachidonic acid metabolism_Homo sapiens_hsa005901.09320516
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.05387416
33Other glycan degradation_Homo sapiens_hsa005111.03388570
34Systemic lupus erythematosus_Homo sapiens_hsa053221.01075096
35Tuberculosis_Homo sapiens_hsa051521.01029722
36Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.00609594
37Retinol metabolism_Homo sapiens_hsa008300.97075797
38GABAergic synapse_Homo sapiens_hsa047270.95431294
39B cell receptor signaling pathway_Homo sapiens_hsa046620.92310679
40Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.92267303
41Pyrimidine metabolism_Homo sapiens_hsa002400.91811902
42Shigellosis_Homo sapiens_hsa051310.88828982
43Pertussis_Homo sapiens_hsa051330.88727136
44Oxidative phosphorylation_Homo sapiens_hsa001900.87364750
45Measles_Homo sapiens_hsa051620.86746564
46Sulfur metabolism_Homo sapiens_hsa009200.85623386
47Parkinsons disease_Homo sapiens_hsa050120.82253778
48Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.81225195
49Osteoclast differentiation_Homo sapiens_hsa043800.80583428
50Sulfur relay system_Homo sapiens_hsa041220.79492116
51One carbon pool by folate_Homo sapiens_hsa006700.77915338
52Phenylalanine metabolism_Homo sapiens_hsa003600.76421951
53Circadian rhythm_Homo sapiens_hsa047100.75246940
54Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74248099
55Epstein-Barr virus infection_Homo sapiens_hsa051690.73009943
56Peroxisome_Homo sapiens_hsa041460.72472994
57Legionellosis_Homo sapiens_hsa051340.72429029
58Cholinergic synapse_Homo sapiens_hsa047250.71832333
59Caffeine metabolism_Homo sapiens_hsa002320.71214326
60Toll-like receptor signaling pathway_Homo sapiens_hsa046200.70009102
61Nucleotide excision repair_Homo sapiens_hsa034200.69365669
62Fanconi anemia pathway_Homo sapiens_hsa034600.68215912
63Lysosome_Homo sapiens_hsa041420.67269447
64Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.66392779
65Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65502759
66Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.64669698
67Morphine addiction_Homo sapiens_hsa050320.64352141
68Dopaminergic synapse_Homo sapiens_hsa047280.63245837
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.62476943
70Glutamatergic synapse_Homo sapiens_hsa047240.61728671
71Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.61720297
72Toxoplasmosis_Homo sapiens_hsa051450.60128308
73ABC transporters_Homo sapiens_hsa020100.57837601
74Serotonergic synapse_Homo sapiens_hsa047260.57787362
75Circadian entrainment_Homo sapiens_hsa047130.57329685
76Tryptophan metabolism_Homo sapiens_hsa003800.56090484
77Platelet activation_Homo sapiens_hsa046110.54890002
78Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.54860605
79T cell receptor signaling pathway_Homo sapiens_hsa046600.53918614
80Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.48519111
81Glutathione metabolism_Homo sapiens_hsa004800.47526754
82Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.47018905
83Jak-STAT signaling pathway_Homo sapiens_hsa046300.46623972
84* Purine metabolism_Homo sapiens_hsa002300.45611920
85Influenza A_Homo sapiens_hsa051640.45014975
86Non-homologous end-joining_Homo sapiens_hsa034500.44230178
87Regulation of autophagy_Homo sapiens_hsa041400.42704137
88African trypanosomiasis_Homo sapiens_hsa051430.42700777
89cGMP-PKG signaling pathway_Homo sapiens_hsa040220.42546183
90Insulin secretion_Homo sapiens_hsa049110.40992997
91Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.38840172
92Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.36450128
93Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.34784460
94HTLV-I infection_Homo sapiens_hsa051660.34355329
95Acute myeloid leukemia_Homo sapiens_hsa052210.33830902
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.33444194
97Nicotine addiction_Homo sapiens_hsa050330.33302132
98TNF signaling pathway_Homo sapiens_hsa046680.32595455
99Fatty acid elongation_Homo sapiens_hsa000620.32545366
100Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.32263818
101Apoptosis_Homo sapiens_hsa042100.31471742
102Transcriptional misregulation in cancer_Homo sapiens_hsa052020.30337537
103Fructose and mannose metabolism_Homo sapiens_hsa000510.29974403
104Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.29487956
105Drug metabolism - other enzymes_Homo sapiens_hsa009830.29348310
106Tyrosine metabolism_Homo sapiens_hsa003500.28967606
107Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28360938
108Phosphatidylinositol signaling system_Homo sapiens_hsa040700.27836038
109Phagosome_Homo sapiens_hsa041450.27701645
110Oxytocin signaling pathway_Homo sapiens_hsa049210.26844344
111cAMP signaling pathway_Homo sapiens_hsa040240.26577251
112Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.26224748
113Cardiac muscle contraction_Homo sapiens_hsa042600.24536108
114Glycerolipid metabolism_Homo sapiens_hsa005610.23971641
115Arginine biosynthesis_Homo sapiens_hsa002200.23933351
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.22519470
117Carbohydrate digestion and absorption_Homo sapiens_hsa049730.22439881
118Inositol phosphate metabolism_Homo sapiens_hsa005620.22322472
119Dilated cardiomyopathy_Homo sapiens_hsa054140.21169896
120Aldosterone synthesis and secretion_Homo sapiens_hsa049250.20269937
121Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.20144078
122mTOR signaling pathway_Homo sapiens_hsa041500.19356129
123Lysine degradation_Homo sapiens_hsa003100.18741591
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.18645863
125Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.17432681
126Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.17417325
127mRNA surveillance pathway_Homo sapiens_hsa030150.16534139
128Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.16475098
129Galactose metabolism_Homo sapiens_hsa000520.16262141
130Cocaine addiction_Homo sapiens_hsa050300.15990842
131Nitrogen metabolism_Homo sapiens_hsa009100.15534400
132Salivary secretion_Homo sapiens_hsa049700.15495007
133Alcoholism_Homo sapiens_hsa050340.15485570
134Chemokine signaling pathway_Homo sapiens_hsa040620.14538573
135Gastric acid secretion_Homo sapiens_hsa049710.14114445
136Renin secretion_Homo sapiens_hsa049240.13700190
137Glucagon signaling pathway_Homo sapiens_hsa049220.11726479
138Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.11495074
139Longevity regulating pathway - mammal_Homo sapiens_hsa042110.11242468
140Biosynthesis of amino acids_Homo sapiens_hsa012300.11007255
141HIF-1 signaling pathway_Homo sapiens_hsa040660.10799928
142Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.10623750
143Calcium signaling pathway_Homo sapiens_hsa040200.10044479
144Base excision repair_Homo sapiens_hsa034100.09931310
145RNA degradation_Homo sapiens_hsa030180.09893632
146Maturity onset diabetes of the young_Homo sapiens_hsa049500.09584963
147Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.08965672
148Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.08740452
149Vitamin digestion and absorption_Homo sapiens_hsa049770.08717890
150Central carbon metabolism in cancer_Homo sapiens_hsa052300.08531329
151AMPK signaling pathway_Homo sapiens_hsa041520.08383287
152Ras signaling pathway_Homo sapiens_hsa040140.07801081
153Long-term potentiation_Homo sapiens_hsa047200.07727986
154Tight junction_Homo sapiens_hsa045300.06999050
155Linoleic acid metabolism_Homo sapiens_hsa005910.06933098
156Amphetamine addiction_Homo sapiens_hsa050310.06137596
157Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.06081808
158Type II diabetes mellitus_Homo sapiens_hsa049300.05461482
159Mineral absorption_Homo sapiens_hsa049780.04863703
160alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.04833560
161Wnt signaling pathway_Homo sapiens_hsa043100.04672766
162Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.04135490
163Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.03797954
164MAPK signaling pathway_Homo sapiens_hsa040100.03059005
165Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.02845456
166Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.02844422
167Hippo signaling pathway_Homo sapiens_hsa043900.02727150
168Pancreatic secretion_Homo sapiens_hsa049720.02482400
169Collecting duct acid secretion_Homo sapiens_hsa049660.02394350
170Cysteine and methionine metabolism_Homo sapiens_hsa002700.01869743
171Ether lipid metabolism_Homo sapiens_hsa005650.01688310
172Taste transduction_Homo sapiens_hsa047420.00391826
173GnRH signaling pathway_Homo sapiens_hsa049120.00294427
174Choline metabolism in cancer_Homo sapiens_hsa052310.00057341
175Notch signaling pathway_Homo sapiens_hsa04330-0.0133068
176PI3K-Akt signaling pathway_Homo sapiens_hsa04151-0.0109211
177Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760-0.0081435
178Vascular smooth muscle contraction_Homo sapiens_hsa04270-0.0021579

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