BFSP1

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





Description: This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine ribonucleoside monophosphate biosynthetic process (GO:0009174)9.17273830
2UMP metabolic process (GO:0046049)9.17273830
3pyrimidine ribonucleoside monophosphate metabolic process (GO:0009173)9.17273830
4UMP biosynthetic process (GO:0006222)9.17273830
5dopamine transport (GO:0015872)8.63810827
6negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)8.62309113
7nucleobase biosynthetic process (GO:0046112)8.60652844
8positive regulation of isotype switching (GO:0045830)8.56126646
9regulation of NFAT protein import into nucleus (GO:0051532)8.06734343
10response to muscle activity (GO:0014850)8.04403741
11toxin transport (GO:1901998)7.94119578
12activated T cell proliferation (GO:0050798)7.90723468
13pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)7.52200414
14visual perception (GO:0007601)7.51372103
15positive regulation of DNA recombination (GO:0045911)7.44051460
16sensory perception of light stimulus (GO:0050953)7.41642411
17histamine transport (GO:0051608)7.26722855
18histone H3-K9 demethylation (GO:0033169)7.26169975
19camera-type eye development (GO:0043010)7.06981205
20pyrimidine nucleoside monophosphate metabolic process (GO:0009129)6.94835732
21leukotriene biosynthetic process (GO:0019370)6.66298018
22organic cation transport (GO:0015695)6.41901016
23cytolysis (GO:0019835)6.39004487
24eye development (GO:0001654)6.05925435
25protein refolding (GO:0042026)6.02646356
26muscle cell cellular homeostasis (GO:0046716)6.02583302
27myofibril assembly (GO:0030239)5.86456083
28bile acid and bile salt transport (GO:0015721)5.68755564
29ovulation from ovarian follicle (GO:0001542)5.59991661
30cellular response to osmotic stress (GO:0071470)5.56345822
31negative regulation of homotypic cell-cell adhesion (GO:0034111)5.44684268
32positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003605.35401658
33cell-cell junction maintenance (GO:0045217)5.34398662
34base-excision repair, AP site formation (GO:0006285)5.25292527
35catecholamine transport (GO:0051937)5.20991298
36arginine catabolic process (GO:0006527)5.20311294
37regulation of protein sumoylation (GO:0033233)5.15830243
38negative regulation of protein tyrosine kinase activity (GO:0061099)4.96141829
39drug transmembrane transport (GO:0006855)4.94893718
40negative regulation of receptor activity (GO:2000272)4.93286929
41neurotransmitter uptake (GO:0001504)4.87040819
42regulation of isotype switching (GO:0045191)4.84106855
43negative regulation of hormone biosynthetic process (GO:0032353)4.83956992
44negative regulation of hormone metabolic process (GO:0032351)4.83956992
45cellular response to exogenous dsRNA (GO:0071360)4.78411933
46positive regulation of B cell mediated immunity (GO:0002714)4.76937513
47positive regulation of immunoglobulin mediated immune response (GO:0002891)4.76937513
48peripheral nervous system neuron development (GO:0048935)4.76648955
49sensory organ development (GO:0007423)4.76629622
50pyrimidine nucleobase metabolic process (GO:0006206)4.64492350
51positive regulation of immunoglobulin production (GO:0002639)4.44741869
52regulation of systemic arterial blood pressure by hormone (GO:0001990)4.42052494
53regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.42052494
54endocrine process (GO:0050886)4.42052494
55mast cell activation involved in immune response (GO:0002279)4.41010019
56mast cell degranulation (GO:0043303)4.41010019
57regulation of meiosis I (GO:0060631)4.38170310
58response to laminar fluid shear stress (GO:0034616)4.37679575
59positive regulation of T cell cytokine production (GO:0002726)4.34333363
60cellular response to fluid shear stress (GO:0071498)4.31554917
61sarcomere organization (GO:0045214)4.30869102
62lymphocyte migration (GO:0072676)4.30461518
63response to salt stress (GO:0009651)4.25590360
64interferon-gamma production (GO:0032609)4.24328252
65monoubiquitinated protein deubiquitination (GO:0035520)4.19660458
66azole transport (GO:0045117)4.16531653
67cell junction maintenance (GO:0034331)4.15748408
68regulation of translational termination (GO:0006449)4.10127497
69regulation of heterotypic cell-cell adhesion (GO:0034114)4.09781032
70regulation of appetite (GO:0032098)4.05148504
71positive regulation of protein import into nucleus, translocation (GO:0033160)4.04996759
72pyrimidine ribonucleoside biosynthetic process (GO:0046132)4.00120212
73lens development in camera-type eye (GO:0002088)30.4305134
74epithelial cell-cell adhesion (GO:0090136)3.95902552
75regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)3.95097753
76positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO3.95097753
77leukotriene metabolic process (GO:0006691)3.90942598
78histone lysine demethylation (GO:0070076)3.90239316
79positive regulation of guanylate cyclase activity (GO:0031284)3.87163918
80regulation of glucocorticoid metabolic process (GO:0031943)3.85107406
81chromatin assembly (GO:0031497)3.83448030
82pyrimidine ribonucleotide biosynthetic process (GO:0009220)3.82119260
83DNA damage response, signal transduction resulting in transcription (GO:0042772)3.82064729
84histone demethylation (GO:0016577)3.73101675
85purine nucleotide salvage (GO:0032261)3.72920247
86icosanoid biosynthetic process (GO:0046456)3.72415663
87fatty acid derivative biosynthetic process (GO:1901570)3.72415663
88negative regulation of protein localization to cell surface (GO:2000009)3.71322848
89cellular response to interferon-beta (GO:0035458)3.69913733
90DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.69837747
91regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.68851404
92positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)3.66852126
93kidney morphogenesis (GO:0060993)3.63347557
94regulation of meiosis (GO:0040020)3.62621540
95response to fluid shear stress (GO:0034405)3.53355092
96quaternary ammonium group transport (GO:0015697)3.52971112
97regulation of Rac protein signal transduction (GO:0035020)3.49754487
98regulation of guanylate cyclase activity (GO:0031282)3.48905640
99insulin-like growth factor receptor signaling pathway (GO:0048009)3.48758536
100positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)3.46286959
101Golgi organization (GO:0007030)3.44166016
102nucleoside salvage (GO:0043174)3.43504667
103negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)3.39077350
104positive regulation of mRNA 3-end processing (GO:0031442)3.38344361
105sensory perception (GO:0007600)3.38028022
106pyrimidine ribonucleotide metabolic process (GO:0009218)3.37937184
107regulation of epithelial cell differentiation involved in kidney development (GO:2000696)3.37203083
108protein dealkylation (GO:0008214)3.36444042
109protein demethylation (GO:0006482)3.36444042
110regulation of systemic arterial blood pressure (GO:0003073)3.35448205
111regulation of epidermal growth factor-activated receptor activity (GO:0007176)3.34258406
112lysosome localization (GO:0032418)3.30620100
113pyrimidine nucleoside biosynthetic process (GO:0046134)3.28279487
114male meiosis (GO:0007140)3.25328881
115unsaturated fatty acid biosynthetic process (GO:0006636)3.24519823
116mitotic chromosome condensation (GO:0007076)3.21023336
117regulation of hippo signaling (GO:0035330)3.20864199
118negative regulation of endothelial cell apoptotic process (GO:2000352)3.17174549
119mitotic metaphase plate congression (GO:0007080)3.15314747
120positive regulation of mRNA catabolic process (GO:0061014)3.14668586
121pyrimidine nucleoside metabolic process (GO:0006213)3.13196476
122regulation of platelet aggregation (GO:0090330)3.12240017
1237-methylguanosine mRNA capping (GO:0006370)3.10005737
124drug transport (GO:0015893)3.06788076
125regulation of myoblast differentiation (GO:0045661)3.05896808
126pyrimidine ribonucleoside metabolic process (GO:0046131)3.04605355
127RNA capping (GO:0036260)3.02161701
1287-methylguanosine RNA capping (GO:0009452)3.02161701
129regulation of exit from mitosis (GO:0007096)3.01709680
130negative regulation of necroptotic process (GO:0060546)2.99218453
131negative regulation of cell aging (GO:0090344)2.97101356
132regulation of steroid hormone biosynthetic process (GO:0090030)2.95370076
133regulation of mRNA 3-end processing (GO:0031440)2.94841891
134ovulation (GO:0030728)2.93159369
135protein complex localization (GO:0031503)2.88390731
136monoamine transport (GO:0015844)2.88127924
137endothelial cell proliferation (GO:0001935)2.87511932
138lactation (GO:0007595)2.87490807
139pyrimidine nucleotide biosynthetic process (GO:0006221)2.86875955
140mitochondrial DNA replication (GO:0006264)2.83543864
141protein homotrimerization (GO:0070207)2.82816342
142protein K6-linked ubiquitination (GO:0085020)2.82199171
143lung epithelium development (GO:0060428)2.80959456
144intermediate filament cytoskeleton organization (GO:0045104)2.80175492
145regulation of meiotic cell cycle (GO:0051445)2.76290602
146intermediate filament-based process (GO:0045103)2.71396877
147mitotic sister chromatid cohesion (GO:0007064)2.67753876
148microtubule nucleation (GO:0007020)2.65591995
149myoblast migration (GO:0051451)2.65487034
150water transport (GO:0006833)2.62763171
151negative regulation of alcohol biosynthetic process (GO:1902931)2.60152687
152regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.58625028
153corticosteroid receptor signaling pathway (GO:0031958)2.58160977
154snRNA transcription (GO:0009301)2.57475144
155regulation of histone H3-K27 methylation (GO:0061085)2.56076810
156negative regulation of keratinocyte proliferation (GO:0010839)2.55660451
157negative regulation of steroid biosynthetic process (GO:0010894)2.53978709
158lung-associated mesenchyme development (GO:0060484)2.53479671
159paraxial mesoderm development (GO:0048339)2.53073594
160negative regulation of fibroblast apoptotic process (GO:2000270)2.52766113
161histone H2A monoubiquitination (GO:0035518)2.47245786
162female gamete generation (GO:0007292)2.45039168
163respiratory tube development (GO:0030323)2.44603376
164female gonad development (GO:0008585)2.44057027
165cell-cell junction assembly (GO:0007043)2.42241608
166regulation of non-canonical Wnt signaling pathway (GO:2000050)2.41377347
167metaphase plate congression (GO:0051310)2.40876622
168notochord development (GO:0030903)2.40700387
169positive regulation of wound healing (GO:0090303)2.39892292
170cellular response to gamma radiation (GO:0071480)2.39273084
171regulation of integrin-mediated signaling pathway (GO:2001044)2.39024980
172meiotic chromosome segregation (GO:0045132)2.37665834
173positive regulation of dendritic spine morphogenesis (GO:0061003)2.37547998
174synaptonemal complex assembly (GO:0007130)2.37311856
175gene silencing by RNA (GO:0031047)2.36289818
176regulation of clathrin-mediated endocytosis (GO:2000369)2.36197219
177regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.35106613
178positive regulation of megakaryocyte differentiation (GO:0045654)2.34996066
179regulation of sister chromatid cohesion (GO:0007063)2.34987504
180male meiosis I (GO:0007141)2.34820595
181regulation of keratinocyte proliferation (GO:0010837)2.33421818
182meiosis I (GO:0007127)2.32202266
183piRNA metabolic process (GO:0034587)2.32137982
184activation of JUN kinase activity (GO:0007257)2.29526493
185fluid transport (GO:0042044)2.28189562
186negative regulation of steroid metabolic process (GO:0045939)2.27697264
187positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.26597159
188negative regulation of platelet activation (GO:0010544)2.26592386
189regulation of cardioblast differentiation (GO:0051890)2.25756694
190cytoplasmic mRNA processing body assembly (GO:0033962)2.21836286
191negative regulation of cell size (GO:0045792)2.21796700
192regulation of cell maturation (GO:1903429)2.19498105
193lens fiber cell differentiation (GO:0070306)18.9357208
194* lens fiber cell development (GO:0070307)13.9663786
195regulation of isotype switching to IgG isotypes (GO:0048302)12.4129692
196lens morphogenesis in camera-type eye (GO:0002089)10.5578365

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1CHD7_19251738_ChIP-ChIP_MESCs_Mouse7.89574660
2GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse6.25259471
3PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse4.39104079
4CREB1_15753290_ChIP-ChIP_HEK293T_Human3.78724944
5ZIC3_20872845_ChIP-ChIP_MESCs_Mouse3.68700982
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat3.67895036
7ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse3.00954647
8ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.82045094
9PCGF2_27294783_Chip-Seq_NPCs_Mouse2.80345780
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.72745356
11FOXM1_23109430_ChIP-Seq_U2OS_Human2.59137792
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.43564025
13IKZF1_21737484_ChIP-ChIP_HCT116_Human2.42742457
14GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.36051457
15KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.23749187
16IGF1R_20145208_ChIP-Seq_DFB_Human2.23405276
17MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.17277394
18NFE2_27457419_Chip-Seq_LIVER_Mouse2.08750246
19EGR1_19032775_ChIP-ChIP_M12_Human2.04637227
20SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.03847307
21SUZ12_27294783_Chip-Seq_NPCs_Mouse2.03133634
22STAT6_21828071_ChIP-Seq_BEAS2B_Human12.3593759
23BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse10.5600631
24BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.92364423
25HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.91297951
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.91129273
27RARG_19884340_ChIP-ChIP_MEFs_Mouse1.87878713
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.85284954
29TRIM28_21343339_ChIP-Seq_HEK293_Human1.76047382
30SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.71766712
31TP63_17297297_ChIP-ChIP_HaCaT_Human1.71099783
32ESR1_20079471_ChIP-ChIP_T-47D_Human1.70991078
33STAT4_19710469_ChIP-ChIP_TH1__Mouse1.68890701
34* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.68134920
35ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.67377088
36EZH2_27294783_Chip-Seq_NPCs_Mouse1.67114412
37* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.63105985
38* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.63105985
39STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.60199750
40ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.59788828
41EP300_21415370_ChIP-Seq_HL-1_Mouse1.55929407
42NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.55513181
43NANOG_18555785_ChIP-Seq_MESCs_Mouse1.53513093
44CDX2_19796622_ChIP-Seq_MESCs_Mouse1.51171318
45ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.50647130
46BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.46865759
47HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.44595934
48BCAT_22108803_ChIP-Seq_LS180_Human1.43194206
49MYC_18940864_ChIP-ChIP_HL60_Human1.37755244
50MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.37331440
51CDX2_20551321_ChIP-Seq_CACO-2_Human1.33325210
52BMI1_23680149_ChIP-Seq_NPCS_Mouse1.32117333
53NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.31823247
54E2F4_17652178_ChIP-ChIP_JURKAT_Human1.31503940
55SOX2_22085726_ChIP-Seq_NPCs_Mouse1.30928190
56CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.30580079
57TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.30372253
58TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.29638933
59MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29104951
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.27016651
61NOTCH1_21737748_ChIP-Seq_TLL_Human1.25738155
62TBX3_20139965_ChIP-Seq_ESCs_Mouse1.25639595
63TBX3_20139965_ChIP-Seq_MESCs_Mouse1.25104395
64RUNX1_26923725_Chip-Seq_HPCs_Mouse1.24811555
65NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.24688126
66FUS_26573619_Chip-Seq_HEK293_Human1.23010541
67* GATA3_24758297_ChIP-Seq_MCF-7_Human1.22359176
68SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.20456564
69HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.19804364
70ZNF263_19887448_ChIP-Seq_K562_Human1.18953134
71PCGF2_27294783_Chip-Seq_ESCs_Mouse1.17361631
72LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.16831616
73STAT3_1855785_ChIP-Seq_MESCs_Mouse1.15611144
74KDM5A_27292631_Chip-Seq_BREAST_Human1.15564875
75CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.15010098
76SALL4_18804426_ChIP-ChIP_XEN_Mouse1.14164402
77CBX2_27304074_Chip-Seq_ESCs_Mouse1.13870546
78P53_22127205_ChIP-Seq_FIBROBLAST_Human1.13161138
79EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.11879135
80FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.11874616
81* NANOG_16153702_ChIP-ChIP_HESCs_Human1.11095277
82SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.10991061
83* CTCF_18555785_Chip-Seq_ESCs_Mouse1.10277576
84* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10067985
85UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.09990182
86GATA1_26923725_Chip-Seq_HPCs_Mouse1.09083266
87TDRD3_21172665_ChIP-Seq_MCF-7_Human1.09051003
88MYC_18555785_ChIP-Seq_MESCs_Mouse1.08936133
89CTCF_27219007_Chip-Seq_Bcells_Human1.08833206
90WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.08392595
91GF1_26923725_Chip-Seq_HPCs_Mouse1.08144581
92* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.07883113
93ESR1_21235772_ChIP-Seq_MCF-7_Human1.07500385
94FOXO3_23340844_ChIP-Seq_DLD1_Human1.06938807
95TBL1_22424771_ChIP-Seq_293T_Human1.03426406
96* GATA1_19941827_ChIP-Seq_MEL86_Mouse1.02886301
97RNF2_18974828_ChIP-Seq_MESCs_Mouse1.02688423
98EZH2_18974828_ChIP-Seq_MESCs_Mouse1.02688423
99* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.02054508
100DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00950489
101KAP1_22055183_ChIP-Seq_ESCs_Mouse1.00629879
102EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.99492468
103JARID2_20064375_ChIP-Seq_MESCs_Mouse0.98992980
104LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse0.98941548
105MYC_18358816_ChIP-ChIP_MESCs_Mouse0.98714923
106OCT4_19829295_ChIP-Seq_ESCs_Human0.98209725
107POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.98208239
108* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.97911737
109OCT4_21477851_ChIP-Seq_ESCs_Mouse0.97280109
110PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.97137101
111CRX_20693478_ChIP-Seq_RETINA_Mouse0.96944430
112RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.96762104
113* SOX2_18555785_ChIP-Seq_MESCs_Mouse0.95852944
114NR3C1_21868756_ChIP-Seq_MCF10A_Human0.95122363
115* RUNX1_27457419_Chip-Seq_LIVER_Mouse0.94611031
116AR_21909140_ChIP-Seq_LNCAP_Human0.93920679
117EED_16625203_ChIP-ChIP_MESCs_Mouse0.93889064
118OCT1_27270436_Chip-Seq_PROSTATE_Human0.93432194
119PU1_27457419_Chip-Seq_LIVER_Mouse0.93182290
120KDM2B_26808549_Chip-Seq_K562_Human0.93073042
121* SMAD1_18555785_Chip-Seq_ESCs_Mouse0.92894928
122* CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.92656338
123KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.92395954
124EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.92272668
125SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.92205637
126* FOXA2_19822575_ChIP-Seq_HepG2_Human0.91682335
127SMAD3_21741376_ChIP-Seq_ESCs_Human0.91543658
128SALL4_22934838_ChIP-ChIP_CD34+_Human0.91330791
129* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.90531681
130VDR_22108803_ChIP-Seq_LS180_Human0.90172070
131CSB_26484114_Chip-Seq_FIBROBLAST_Human0.90041194
132RNF2_27304074_Chip-Seq_ESCs_Mouse0.89637188
133PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.88849636
134ELK1_22589737_ChIP-Seq_MCF10A_Human0.88834182
135GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.88014854
136KDM2B_26808549_Chip-Seq_JURKAT_Human0.87967992
137GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.87915629
138FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.87550216
139AUTS2_25519132_ChIP-Seq_293T-REX_Human0.87378222
140ELF1_20517297_ChIP-Seq_JURKAT_Human0.86595952
141GATA3_21867929_ChIP-Seq_TH1_Mouse0.86480076
142FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.85643224
143SMAD1_18555785_ChIP-Seq_MESCs_Mouse0.85473514
144TCF7_22412390_ChIP-Seq_EML_Mouse0.85228215
145AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.84294108
146SALL1_21062744_ChIP-ChIP_HESCs_Human0.83801038
147SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.83730213
148NFYA_21822215_ChIP-Seq_K562_Human0.82834312
149KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.82471051
150* SOX2_18555785_Chip-Seq_ESCs_Mouse0.82385494
151PPAR_26484153_Chip-Seq_NCI-H1993_Human0.82039336
152* LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.81668024
153E2F7_22180533_ChIP-Seq_HELA_Human0.80615936
154MYC_19030024_ChIP-ChIP_MESCs_Mouse0.79377923
155* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.78763352
156* ATF3_27146783_Chip-Seq_COLON_Human0.78738532
157TCF3_18692474_ChIP-Seq_MEFs_Mouse0.78163562
158SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77689915
159KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.77649887
160ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.77340185
161* CJUN_26792858_Chip-Seq_BT549_Human0.77150746
162TET1_21451524_ChIP-Seq_MESCs_Mouse0.76792778
163STAT1_17558387_ChIP-Seq_HELA_Human0.76470508
164GATA2_21666600_ChIP-Seq_HMVEC_Human0.75689955
165TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75477336
166POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.75477336
167* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.75230694
168NELFA_20434984_ChIP-Seq_ESCs_Mouse0.72430406
169YY1_21170310_ChIP-Seq_MESCs_Mouse0.71712089
170P63_26484246_Chip-Seq_KERATINOCYTES_Human0.69937440
171ESR2_21235772_ChIP-Seq_MCF-7_Human0.69201754
172NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.69096615
173* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.69086052
174TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.68551283
175FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.68130971
176KLF5_25053715_ChIP-Seq_YYC3_Human0.67854400
177TAL1_26923725_Chip-Seq_HPCs_Mouse0.67493509
178CTCF_18555785_ChIP-Seq_MESCs_Mouse0.67211111
179TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.66767153
180EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.66511930
181GF1B_26923725_Chip-Seq_HPCs_Mouse0.66070602
182FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.65844294
183ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.64941691
184IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.64364928

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0006082_CNS_inflammation8.99816938
2* MP0005193_abnormal_anterior_eye7.89347279
3MP0009697_abnormal_copulation4.37126850
4MP0000858_altered_metastatic_potential4.22532418
5MP0005253_abnormal_eye_physiology3.78673774
6MP0001286_abnormal_eye_development3.61078232
7MP0005197_abnormal_uvea_morphology3.57955352
8MP0002653_abnormal_ependyma_morphology3.35548853
9MP0002092_abnormal_eye_morphology3.30219891
10MP0001346_abnormal_lacrimal_gland2.96983188
11MP0000749_muscle_degeneration2.83932662
12MP0001873_stomach_inflammation2.75954481
13MP0004782_abnormal_surfactant_physiolog2.63594478
14MP0005391_vision/eye_phenotype2.54747909
15MP0003941_abnormal_skin_development2.47358254
16MP0005167_abnormal_blood-brain_barrier2.24464651
17MP0003646_muscle_fatigue2.23073180
18MP0003828_pulmonary_edema2.23071580
19MP0004084_abnormal_cardiac_muscle2.16167493
20MP0005451_abnormal_body_composition2.15003535
21MP0002697_abnormal_eye_size12.6423312
22MP0002132_abnormal_respiratory_system10.8028308
23MP0003300_gastrointestinal_ulcer1.99115630
24MP0003123_paternal_imprinting1.92934162
25MP0006292_abnormal_olfactory_placode1.77410055
26MP0004185_abnormal_adipocyte_glucose1.73183590
27MP0002405_respiratory_system_inflammati1.71617335
28MP0010368_abnormal_lymphatic_system1.63494202
29MP0004883_abnormal_blood_vessel1.57819091
30MP0010155_abnormal_intestine_physiology1.54480265
31MP0002090_abnormal_vision1.48942041
32MP0004036_abnormal_muscle_relaxation1.46284885
33MP0000767_abnormal_smooth_muscle1.42210961
34MP0001299_abnormal_eye_distance/1.41132681
35MP0001727_abnormal_embryo_implantation1.41103787
36MP0008775_abnormal_heart_ventricle1.38558047
37MP0003119_abnormal_digestive_system1.32981689
38MP0002163_abnormal_gland_morphology1.24935753
39MP0001915_intracranial_hemorrhage1.21848588
40MP0000467_abnormal_esophagus_morphology1.17800776
41MP0005257_abnormal_intraocular_pressure1.17679263
42MP0000566_synostosis1.17220605
43MP0003693_abnormal_embryo_hatching1.17115119
44MP0002254_reproductive_system_inflammat1.16676913
45MP0002249_abnormal_larynx_morphology1.16274003
46MP0002102_abnormal_ear_morphology1.14731354
47MP0002269_muscular_atrophy1.10741373
48MP0009250_abnormal_appendicular_skeleto1.09238861
49MP0002638_abnormal_pupillary_reflex1.08733224
50MP0005647_abnormal_sex_gland1.07949176
51MP0005395_other_phenotype1.07086864
52MP0002295_abnormal_pulmonary_circulatio1.01570043
53MP0002108_abnormal_muscle_morphology1.01081012
54MP0008438_abnormal_cutaneous_collagen0.98698146
55MP0004272_abnormal_basement_membrane0.95340790
56MP0002184_abnormal_innervation0.94372931
57MP0005195_abnormal_posterior_eye0.93873472
58MP0000013_abnormal_adipose_tissue0.93245561
59MP0005671_abnormal_response_to0.92275450
60MP0009053_abnormal_anal_canal0.91424843
61MP0005330_cardiomyopathy0.89972576
62MP0003950_abnormal_plasma_membrane0.89731071
63MP0001849_ear_inflammation0.89555640
64MP0005164_abnormal_response_to0.88670557
65MP0003252_abnormal_bile_duct0.88519261
66MP0003077_abnormal_cell_cycle0.88039872
67MP0004957_abnormal_blastocyst_morpholog0.87625809
68MP0005248_abnormal_Harderian_gland0.86684047
69MP0001340_abnormal_eyelid_morphology0.85248705
70MP0008770_decreased_survivor_rate0.84493401
71MP0005408_hypopigmentation0.83340788
72MP0000516_abnormal_urinary_system0.80864634
73MP0005367_renal/urinary_system_phenotyp0.80864634
74MP0003111_abnormal_nucleus_morphology0.80262347
75MP0008469_abnormal_protein_level0.79754299
76MP0003690_abnormal_glial_cell0.79674348
77MP0010030_abnormal_orbit_morphology0.78178279
78MP0003315_abnormal_perineum_morphology0.77297990
79MP0001929_abnormal_gametogenesis0.76639620
80MP0001730_embryonic_growth_arrest0.76330146
81MP0003937_abnormal_limbs/digits/tail_de0.75349419
82MP0003787_abnormal_imprinting0.74046136
83MP0001905_abnormal_dopamine_level0.73403104
84MP0003705_abnormal_hypodermis_morpholog0.73055467
85MP0002084_abnormal_developmental_patter0.71485455
86MP0003186_abnormal_redox_activity0.71484151
87MP0005623_abnormal_meninges_morphology0.70509630
88MP0000762_abnormal_tongue_morphology0.70324121
89MP0001663_abnormal_digestive_system0.70183778
90MP0003045_fibrosis0.69256379
91MP0004087_abnormal_muscle_fiber0.68654470
92MP0001881_abnormal_mammary_gland0.68056530
93MP0002085_abnormal_embryonic_tissue0.67382548
94MP0009785_altered_susceptibility_to0.66240772
95MP0005595_abnormal_vascular_smooth0.65964477
96MP0005171_absent_coat_pigmentation0.65694501
97MP0000613_abnormal_salivary_gland0.65215941
98MP0000428_abnormal_craniofacial_morphol0.64254845
99MP0005075_abnormal_melanosome_morpholog0.63655356
100MP0005275_abnormal_skin_tensile0.63417679
101MP0003656_abnormal_erythrocyte_physiolo0.63164760
102MP0001697_abnormal_embryo_size0.63068297
103MP0002928_abnormal_bile_duct0.62908825
104MP0010234_abnormal_vibrissa_follicle0.62559779
105MP0002877_abnormal_melanocyte_morpholog0.62185586
106MP0002796_impaired_skin_barrier0.61178879
107MP0005187_abnormal_penis_morphology0.61019718
108MP0002734_abnormal_mechanical_nocicepti0.60943490
109MP0001672_abnormal_embryogenesis/_devel0.60852603
110MP0005380_embryogenesis_phenotype0.60852603
111MP0008873_increased_physiological_sensi0.60626898
112MP0003718_maternal_effect0.60603113
113MP0005388_respiratory_system_phenotype0.60110540
114MP0002133_abnormal_respiratory_system0.60110540
115MP0002139_abnormal_hepatobiliary_system0.59932148
116MP0003638_abnormal_response/metabolism_0.59596260
117MP0001851_eye_inflammation0.59492386
118MP0005369_muscle_phenotype0.59054482
119MP0003699_abnormal_female_reproductive0.58499441
120MP0000490_abnormal_crypts_of0.58182483
121MP0001529_abnormal_vocalization0.57981522
122MP0005319_abnormal_enzyme/_coenzyme0.55387623
123MP0003984_embryonic_growth_retardation0.55381822
124MP0003115_abnormal_respiratory_system0.55115173
125MP0003566_abnormal_cell_adhesion0.53890501
126MP0003121_genomic_imprinting0.53456694
127MP0001845_abnormal_inflammatory_respons0.52513818
128MP0003763_abnormal_thymus_physiology0.52441786
129MP0002127_abnormal_cardiovascular_syste0.52209879
130MP0005379_endocrine/exocrine_gland_phen0.51789031
131MP0002088_abnormal_embryonic_growth/wei0.51416624
132MP0000639_abnormal_adrenal_gland0.51208935
133MP0005381_digestive/alimentary_phenotyp0.50951409
134MP0004264_abnormal_extraembryonic_tissu0.50824965
135MP0002086_abnormal_extraembryonic_tissu0.50730041
136MP0002177_abnormal_outer_ear0.50697310
137MP0008995_early_reproductive_senescence0.50555107
138MP0010307_abnormal_tumor_latency0.49097775
139MP0000350_abnormal_cell_proliferation0.49018184
140MP0004197_abnormal_fetal_growth/weight/0.48495432
141MP0002116_abnormal_craniofacial_bone0.47965741
142MP0002925_abnormal_cardiovascular_devel0.47118672
143MP0005410_abnormal_fertilization0.46986279
144MP0003861_abnormal_nervous_system0.46932427
145MP0001784_abnormal_fluid_regulation0.46220232
146MP0001119_abnormal_female_reproductive0.46083744
147MP0000049_abnormal_middle_ear0.45482402
148MP0000759_abnormal_skeletal_muscle0.45233060
149MP0005000_abnormal_immune_tolerance0.45079214
150MP0001186_pigmentation_phenotype0.44523296
151MP0000653_abnormal_sex_gland0.44513450
152MP0003385_abnormal_body_wall0.44437431
153MP0002837_dystrophic_cardiac_calcinosis0.43644819
154MP0002736_abnormal_nociception_after0.43384309
155MP0002111_abnormal_tail_morphology0.42860308
156MP0002210_abnormal_sex_determination0.42500051
157MP0001943_abnormal_respiration0.42472688
158MP0005076_abnormal_cell_differentiation0.42226686
159MP0002019_abnormal_tumor_incidence0.42198598
160MP0005310_abnormal_salivary_gland0.42166316
161MP0005551_abnormal_eye_electrophysiolog0.41991946
162MP0003755_abnormal_palate_morphology0.41930189
163MP0001502_abnormal_circadian_rhythm0.40729700
164MP0000249_abnormal_blood_vessel0.40469001
165MP0008877_abnormal_DNA_methylation0.39650551
166MP0001800_abnormal_humoral_immune0.39513515
167MP0002136_abnormal_kidney_physiology0.39380073
168MP0004142_abnormal_muscle_tone0.39289490
169MP0005666_abnormal_adipose_tissue0.37706242
170MP0000462_abnormal_digestive_system0.37694466
171MP0000537_abnormal_urethra_morphology0.37610366
172MP0002735_abnormal_chemical_nociception0.36829747
173MP0003935_abnormal_craniofacial_develop0.36558103
174MP0003632_abnormal_nervous_system0.36340533
175MP0000538_abnormal_urinary_bladder0.36111692
176MP0003633_abnormal_nervous_system0.35961413
177MP0008007_abnormal_cellular_replicative0.35789489
178MP0002896_abnormal_bone_mineralization0.35207063
179MP0009333_abnormal_splenocyte_physiolog0.35012308
180MP0000579_abnormal_nail_morphology0.34985759
181MP0009643_abnormal_urine_homeostasis0.34042647

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of pyrimidine metabolism (HP:0004353)9.12283024
2Abnormality of monocarboxylic acid metabolism (HP:0010996)7.93593954
3Congenital cataract (HP:0000519)7.75046025
4Corneal dystrophy (HP:0001131)7.13737351
5Megaloblastic anemia (HP:0001889)6.92095153
6Amblyopia (HP:0000646)6.75184149
7Anterior segment dysgenesis (HP:0007700)6.68087069
8Thrombocytosis (HP:0001894)5.97883965
9Spinal muscular atrophy (HP:0007269)5.52126965
10Abnormality of the anterior horn cell (HP:0006802)5.20180101
11Degeneration of anterior horn cells (HP:0002398)5.20180101
12Diaphragmatic weakness (HP:0009113)5.17829241
13Stridor (HP:0010307)4.88915846
14Elevated erythrocyte sedimentation rate (HP:0003565)4.82886564
15Follicular hyperkeratosis (HP:0007502)4.69541618
16Hypsarrhythmia (HP:0002521)4.68008939
17Interstitial pulmonary disease (HP:0006530)4.62026705
18EEG with generalized epileptiform discharges (HP:0011198)4.53642778
19Epileptiform EEG discharges (HP:0011182)4.35632034
20Polar cataract (HP:0010696)4.27433648
21Alopecia of scalp (HP:0002293)4.16992441
22Abnormality of T cell physiology (HP:0011840)4.10624138
23Poikilocytosis (HP:0004447)4.02948857
24J-shaped sella turcica (HP:0002680)3.96005831
25Conjugated hyperbilirubinemia (HP:0002908)3.93158912
26Unilateral renal agenesis (HP:0000122)3.87108263
27Delayed CNS myelination (HP:0002188)3.79992437
28Obstructive sleep apnea (HP:0002870)3.73165687
29Clumsiness (HP:0002312)3.70228982
30Microcornea (HP:0000482)3.62687326
31Neonatal short-limb short stature (HP:0008921)3.59687594
32Abnormality of nucleobase metabolism (HP:0010932)3.56670153
33Macrocytic anemia (HP:0001972)3.56511353
34Erythema (HP:0010783)3.54811405
35Decreased activity of mitochondrial respiratory chain (HP:0008972)3.18679758
36Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.18679758
37Cheilitis (HP:0100825)3.13376324
38Nuclear cataract (HP:0100018)27.3491394
39* Zonular cataract (HP:0010920)23.0201729
40Iris coloboma (HP:0000612)2.89742756
41Absent eyebrow (HP:0002223)2.84611580
42Weak cry (HP:0001612)2.84556805
43Abnormality of the anterior chamber (HP:0000593)2.81963293
44Myositis (HP:0100614)2.79230646
45Opacification of the corneal stroma (HP:0007759)2.69474841
46Parakeratosis (HP:0001036)2.68907185
47Eosinophilia (HP:0001880)2.68848953
48Absent eyelashes (HP:0000561)2.59824372
49Hypoproteinemia (HP:0003075)2.50320818
50Natal tooth (HP:0000695)2.49240415
51Abnormal number of incisors (HP:0011064)2.47595679
52Synostosis of carpal bones (HP:0005048)2.46228317
53Atrophy/Degeneration involving motor neurons (HP:0007373)2.40339686
54Sclerocornea (HP:0000647)2.40056704
55Hemiplegia (HP:0002301)2.38318520
56Hematuria (HP:0000790)2.34743213
57Myocardial infarction (HP:0001658)2.31299967
58Facial diplegia (HP:0001349)2.29720598
59Palmoplantar hyperkeratosis (HP:0000972)2.29494098
60Abnormality of T cells (HP:0002843)2.28664446
61Palmar hyperkeratosis (HP:0010765)2.17763201
62Asthma (HP:0002099)2.16727255
63Facial cleft (HP:0002006)2.11874169
64Congenital primary aphakia (HP:0007707)2.11346926
65Vacuolated lymphocytes (HP:0001922)2.10754217
66Colon cancer (HP:0003003)2.10674778
67Nail dystrophy (HP:0008404)2.10265463
68Blepharitis (HP:0000498)2.10176593
69Deformed sella turcica (HP:0002681)2.10067202
70Recurrent corneal erosions (HP:0000495)2.08673639
71Granulocytopenia (HP:0001913)2.05740599
72Scapular winging (HP:0003691)2.02525363
73Bifid scrotum (HP:0000048)2.00470940
74Nasal polyposis (HP:0100582)11.8928979
75Abnormality of the nasal mucosa (HP:0000433)10.2133299
76Vascular tortuosity (HP:0004948)1.98759816
77Abnormality of the common coagulation pathway (HP:0010990)1.97997256
78Plantar hyperkeratosis (HP:0007556)1.97898378
79Aplasia/Hypoplasia of the macula (HP:0008059)1.96502846
80Proximal amyotrophy (HP:0007126)1.96110956
81Abnormality of the alveolar ridges (HP:0006477)1.92431625
82Joint stiffness (HP:0001387)1.90195709
83Abnormality of eosinophils (HP:0001879)1.87854191
84Fatigue (HP:0012378)1.87016670
85Aplasia/Hypoplasia of the lens (HP:0008063)1.85106156
86Rib fusion (HP:0000902)1.85076912
87Posterior subcapsular cataract (HP:0007787)1.84003073
88Aplasia/Hypoplasia affecting the retina (HP:0008061)1.83745619
89Carpal synostosis (HP:0009702)1.83682170
90Erythroderma (HP:0001019)1.79309687
91Striae distensae (HP:0001065)1.79230723
92Mild short stature (HP:0003502)1.76320631
93Hypergammaglobulinemia (HP:0010702)1.72013215
94Tachypnea (HP:0002789)1.71892137
953-Methylglutaconic aciduria (HP:0003535)1.69991721
96Popliteal pterygium (HP:0009756)1.68839243
97Hypercortisolism (HP:0001578)1.68530104
98Fetal akinesia sequence (HP:0001989)1.68418896
99Tetraplegia (HP:0002445)1.67270679
100Polycythemia (HP:0001901)1.64453117
101Sparse eyelashes (HP:0000653)1.64363999
102Absent hair (HP:0002298)1.61461947
103Gout (HP:0001997)1.61019240
104Conical tooth (HP:0000698)1.58282462
105Abnormal platelet function (HP:0011869)1.57256709
106Impaired platelet aggregation (HP:0003540)1.57256709
107Hyponatremia (HP:0002902)1.57074734
108Premature rupture of membranes (HP:0001788)1.55669878
109Stomach cancer (HP:0012126)1.54706028
110Synostosis involving bones of the hand (HP:0004278)1.53008173
111EMG: neuropathic changes (HP:0003445)1.51269682
112Vascular calcification (HP:0004934)1.50887456
113Hyperbilirubinemia (HP:0002904)1.50053792
114Increased serum ferritin (HP:0003281)1.49778814
115Cardiovascular calcification (HP:0011915)1.48555671
116Amniotic constriction ring (HP:0009775)1.48166687
117Abnormality of placental membranes (HP:0011409)1.48166687
118Increased purine levels (HP:0004368)1.47661043
119Hyperuricemia (HP:0002149)1.47661043
120White forelock (HP:0002211)1.45160712
121Neonatal respiratory distress (HP:0002643)1.44778392
122Metaphyseal irregularity (HP:0003025)1.44428280
123Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.43317608
124Fair hair (HP:0002286)1.42838096
125Aplasia of the musculature (HP:0100854)1.41863169
126Abnormality of the sella turcica (HP:0002679)1.41554137
127Renal dysplasia (HP:0000110)1.41016673
128Patellar aplasia (HP:0006443)1.36982343
129Difficulty walking (HP:0002355)1.35370348
130Leukocytosis (HP:0001974)1.35296147
131Long clavicles (HP:0000890)1.33990530
132Papillary thyroid carcinoma (HP:0002895)1.32247077
133Hypoplastic nipples (HP:0002557)1.24695947
134Abnormality of the shoulder girdle musculature (HP:0001435)1.24430251
135Abnormality of the labia majora (HP:0012881)1.24281688
136Aplasia/Hypoplasia of the patella (HP:0006498)1.23853760
137Adrenal hypoplasia (HP:0000835)1.23222217
138Akinesia (HP:0002304)1.17481419
139Symphalangism affecting the phalanges of the hand (HP:0009773)1.14483000
140Male infertility (HP:0003251)1.12552588
141Camptodactyly of toe (HP:0001836)1.12301615
142Vertebral clefting (HP:0008428)1.07313889
143Subcapsular cataract (HP:0000523)1.05232150
144Chorioretinal coloboma (HP:0000567)1.04559658
145Fused cervical vertebrae (HP:0002949)1.02611511
146Cystic hygroma (HP:0000476)0.98848873
147Exostoses (HP:0100777)0.94894651
148Aplasia/Hypoplasia involving the musculature (HP:0001460)0.92262419
149Facial hemangioma (HP:0000329)0.89571275
150Oligodactyly (HP:0012165)0.89257842
151Capillary hemangiomas (HP:0005306)0.86197404
152Oligodactyly (hands) (HP:0001180)0.84011981
153Thin ribs (HP:0000883)0.83499525
154Pterygium (HP:0001059)0.79468257
155Flexion contracture of toe (HP:0005830)0.75844692
156Joint contractures involving the joints of the feet (HP:0100492)0.75844692
157Dislocated radial head (HP:0003083)0.74255019
158Shawl scrotum (HP:0000049)0.74097017
159Aplasia/Hypoplasia of the fovea (HP:0008060)0.72833797
160Hypoplasia of the fovea (HP:0007750)0.72833797
161Abnormality of the fovea (HP:0000493)0.71444722
162Abnormality of the aortic arch (HP:0012303)0.71129893
163Abnormality of the fingertips (HP:0001211)0.70751027
164Abnormality of the labia (HP:0000058)0.69145691
165Abnormality of the radial head (HP:0003995)0.67879019
166Breast aplasia (HP:0100783)0.67013554
167Hypoplastic pelvis (HP:0008839)0.66873571
168Thyroid carcinoma (HP:0002890)0.66405764
169Muscle fiber splitting (HP:0003555)0.65797394
170Genu recurvatum (HP:0002816)0.65135055
171Aplasia/Hypoplasia of the breasts (HP:0010311)0.64995507
172Abnormality of the humeroradial joint (HP:0100744)0.64135743
173Malignant hyperthermia (HP:0002047)0.61647747
174Lip pit (HP:0100267)0.61185936
175Abnormality of cochlea (HP:0000375)0.61016102
176Abnormality of incisor morphology (HP:0011063)0.59777473
177Hypoplastic heart (HP:0001961)0.59738732
178Microglossia (HP:0000171)0.59522473
179Abnormality of the labia minora (HP:0012880)0.59268018
180Neonatal hypoglycemia (HP:0001998)0.58499116
181Breast hypoplasia (HP:0003187)0.55655627
182Aplasia/Hypoplasia affecting the fundus (HP:0008057)0.55538401
183Spina bifida occulta (HP:0003298)0.55425854
184Birth length less than 3rd percentile (HP:0003561)0.54932198
185Arterial tortuosity (HP:0005116)0.54778111
186Ependymoma (HP:0002888)0.53946741
187Late onset (HP:0003584)0.53544015
188Rocker bottom foot (HP:0001838)0.53518748
189Coarctation of aorta (HP:0001680)0.53364259
190Insidious onset (HP:0003587)0.52411613
191Termporal pattern (HP:0011008)0.52411613
192Aplasia/Hypoplasia of the nipples (HP:0006709)0.51316993
193Autosomal dominant inheritance (HP:0000006)0.51156034
194Scrotal hypoplasia (HP:0000046)0.50322915
195Diastasis recti (HP:0001540)0.50076365
196Posterior embryotoxon (HP:0000627)0.49739111
197Lymphangioma (HP:0100764)0.49182262

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LATS16.52535607
2ITK6.36166137
3PTK2B5.96119994
4LATS25.30584866
5ZAP704.77466614
6STK38L4.29347061
7MAP2K64.15499420
8MAP3K124.09785796
9PRKG23.36881558
10TAOK12.77868839
11MAP3K62.68817591
12GSK3A2.64434125
13MYLK2.57053646
14KSR22.50534097
15ERBB42.48046542
16NME22.44582234
17CDC72.24723685
18TBK12.22119233
19MST1R2.21516027
20SGK12.14600042
21MAPK72.13041687
22MAP3K92.05286067
23CDK82.05133231
24BLK2.04434689
25DYRK21.90303702
26MAP3K71.84739011
27EPHA21.81947726
28TGFBR21.81524962
29TESK11.76547018
30DMPK1.67516442
31ABL21.66713097
32STK381.63452449
33STK391.57705713
34STK31.57218715
35LMTK21.55899875
36RAF11.48727479
37PLK41.44432579
38PRKD31.44403478
39MAP3K131.42156298
40PAK61.35283361
41ARAF1.28561102
42TRIB31.26461094
43DAPK11.23942862
44LIMK11.23910445
45PIM11.21763910
46TESK21.21618851
47FER1.19273196
48PRKG11.15988413
49KDR1.15271968
50MAPK101.12396779
51WNK41.04103669
52MET0.98611951
53CDK90.98486418
54KSR10.98117276
55CHEK20.97790925
56CDK120.96216911
57HIPK20.94068935
58BRAF0.93414824
59PDGFRA0.89563111
60JAK30.88782893
61PKN20.88491895
62TYRO30.86731903
63MELK0.85686143
64EEF2K0.85181345
65MAP3K40.85059644
66IGF1R0.83374284
67NTRK10.82267604
68NEK20.81840077
69CSNK1G10.80628289
70TIE10.79575466
71CSNK1A10.76196143
72MAPKAPK50.76111845
73BUB10.75909675
74PRKD20.70950724
75CLK10.69784732
76CSNK1G20.69533545
77TTK0.69491856
78BCKDK0.69469128
79PRKCZ0.69080199
80PDGFRB0.68987940
81NUAK10.67723672
82FGFR10.66623887
83WNK10.66607051
84IRAK30.66599320
85CSNK1G30.65004717
86STK100.64269215
87MUSK0.64108523
88ILK0.63974923
89MARK20.62854432
90FLT30.62500775
91CDK60.62104988
92RET0.61014316
93PRKCB0.60107440
94EPHB20.59937670
95PTK20.59863109
96CSNK1A1L0.58675833
97MAP3K50.58077936
98PIK3CA0.56612744
99MST40.56383183
100MAP2K40.55638467
101BTK0.55285137
102PRKAA20.54094243
103MAP3K80.53724209
104VRK10.53716151
105DAPK30.52654969
106LRRK20.51307056
107ERBB20.50564518
108RPS6KA30.48633554
109MOS0.48604980
110PAK40.48152291
111TAOK30.47364995
112EIF2AK30.46092450
113EPHB10.44211528
114PBK0.43308301
115PLK30.42115664
116BRSK10.41791423
117PRKACB0.41481082
118INSR0.41477453
119CAMK1G0.41429233
120FGR0.41380279
121MAPK110.40105014
122CDK40.39752008
123PNCK0.38675650
124CHEK10.38627570
125SGK4940.36248503
126SGK2230.36248503
127AURKB0.36098511
128GRK10.34335761
129CDK150.34327313
130MAP3K30.33475152
131PKN10.31785118
132CDK11A0.31206183
133MAPK130.30848417
134ROCK20.30631554
135MAP3K10.30158879
136ICK0.29220063
137NEK10.29035119
138PRKAA10.28945927
139NEK90.28845178
140CDK180.28705023
141TSSK60.28236645
142STK40.28233220
143TRIM280.28105474
144WEE10.28102302
145ATM0.27853704
146PTK60.27533384
147PRKCI0.26721433
148ROCK10.26610856
149DDR20.26480397
150RPS6KA10.26339457
151CDK10.26089768
152PRKACG0.25647186
153CDK140.25181233
154PLK10.24777480
155CAMK2D0.24767247
156ABL10.24764659
157PIM20.24147642
158GRK70.24114083
159GRK60.23047658
160TTN0.22881621
161EIF2AK10.21215183
162CDK70.19746703
163PHKG20.18578755
164PHKG10.18578755
165PAK20.17999745
166PRKCE0.17121264
167RPS6KA50.16508560
168AURKA0.14496235

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053326.51223729
2Drug metabolism - other enzymes_Homo sapiens_hsa009835.98790288
3Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046504.18921987
4Cell cycle_Homo sapiens_hsa041103.12656242
5Pyrimidine metabolism_Homo sapiens_hsa002403.00810468
6Base excision repair_Homo sapiens_hsa034102.88256887
7Ribosome_Homo sapiens_hsa030102.86837301
8Antigen processing and presentation_Homo sapiens_hsa046122.58052682
9Small cell lung cancer_Homo sapiens_hsa052222.43713594
10Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.39007334
11Renal cell carcinoma_Homo sapiens_hsa052112.25506225
12Malaria_Homo sapiens_hsa051442.24385395
13Circadian rhythm_Homo sapiens_hsa047102.23013586
14Basal transcription factors_Homo sapiens_hsa030222.21710860
15Ubiquitin mediated proteolysis_Homo sapiens_hsa041202.19831459
16Pancreatic cancer_Homo sapiens_hsa052122.18682457
17Adherens junction_Homo sapiens_hsa045202.16932501
18TGF-beta signaling pathway_Homo sapiens_hsa043502.09146751
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.06151190
20Dorso-ventral axis formation_Homo sapiens_hsa043202.04380172
21Viral myocarditis_Homo sapiens_hsa054161.87609639
22Spliceosome_Homo sapiens_hsa030401.87237634
23mTOR signaling pathway_Homo sapiens_hsa041501.83912297
24Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.81644915
25beta-Alanine metabolism_Homo sapiens_hsa004101.81267440
26Ether lipid metabolism_Homo sapiens_hsa005651.80756547
27Thyroid cancer_Homo sapiens_hsa052161.80339432
28Hedgehog signaling pathway_Homo sapiens_hsa043401.78755888
29Hippo signaling pathway_Homo sapiens_hsa043901.77498026
30MicroRNAs in cancer_Homo sapiens_hsa052061.68403310
31Choline metabolism in cancer_Homo sapiens_hsa052311.68122646
32Linoleic acid metabolism_Homo sapiens_hsa005911.65818437
33RNA degradation_Homo sapiens_hsa030181.64097132
34alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.63744375
35Prolactin signaling pathway_Homo sapiens_hsa049171.61732653
36Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.57432713
37Thyroid hormone signaling pathway_Homo sapiens_hsa049191.53352812
38Longevity regulating pathway - mammal_Homo sapiens_hsa042111.50740089
39Vitamin B6 metabolism_Homo sapiens_hsa007501.49785159
40Glioma_Homo sapiens_hsa052141.48194912
41Colorectal cancer_Homo sapiens_hsa052101.44987494
42Non-small cell lung cancer_Homo sapiens_hsa052231.43275060
43ErbB signaling pathway_Homo sapiens_hsa040121.41257101
44Endometrial cancer_Homo sapiens_hsa052131.41039825
45Bladder cancer_Homo sapiens_hsa052191.37177300
46Prostate cancer_Homo sapiens_hsa052151.34318744
47Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.34173042
48Basal cell carcinoma_Homo sapiens_hsa052171.30509865
49Chronic myeloid leukemia_Homo sapiens_hsa052201.30287864
50Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.30067014
51Oocyte meiosis_Homo sapiens_hsa041141.27775505
52Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.21218879
53Melanogenesis_Homo sapiens_hsa049161.20107273
54Wnt signaling pathway_Homo sapiens_hsa043101.18795151
55VEGF signaling pathway_Homo sapiens_hsa043701.18403418
56RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.17013003
57p53 signaling pathway_Homo sapiens_hsa041151.15807711
58Phospholipase D signaling pathway_Homo sapiens_hsa040721.14743425
59GnRH signaling pathway_Homo sapiens_hsa049121.13759007
60Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.11569633
61Ovarian steroidogenesis_Homo sapiens_hsa049131.11192638
62Tight junction_Homo sapiens_hsa045301.11048476
63Central carbon metabolism in cancer_Homo sapiens_hsa052301.08606996
64NF-kappa B signaling pathway_Homo sapiens_hsa040641.08168517
65Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.02964517
66Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.00979934
67Estrogen signaling pathway_Homo sapiens_hsa049150.99757661
68Ras signaling pathway_Homo sapiens_hsa040140.97929154
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.97576143
70AMPK signaling pathway_Homo sapiens_hsa041520.93952603
71Pathways in cancer_Homo sapiens_hsa052000.92569247
72RNA polymerase_Homo sapiens_hsa030200.90888132
73Nucleotide excision repair_Homo sapiens_hsa034200.89850465
74Protein export_Homo sapiens_hsa030600.89237704
75FoxO signaling pathway_Homo sapiens_hsa040680.87993605
76Long-term depression_Homo sapiens_hsa047300.84844943
77Insulin signaling pathway_Homo sapiens_hsa049100.84621682
78Maturity onset diabetes of the young_Homo sapiens_hsa049500.83815141
79RNA transport_Homo sapiens_hsa030130.82930757
80Melanoma_Homo sapiens_hsa052180.80021761
81Proteoglycans in cancer_Homo sapiens_hsa052050.79609623
82Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.77902474
83Amoebiasis_Homo sapiens_hsa051460.77634986
84T cell receptor signaling pathway_Homo sapiens_hsa046600.77029091
85Glucagon signaling pathway_Homo sapiens_hsa049220.76728543
86Lysosome_Homo sapiens_hsa041420.72967081
87Selenocompound metabolism_Homo sapiens_hsa004500.71910597
88Focal adhesion_Homo sapiens_hsa045100.71715216
89Regulation of actin cytoskeleton_Homo sapiens_hsa048100.70259592
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67024578
91Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.66135638
92Rap1 signaling pathway_Homo sapiens_hsa040150.66039093
93Folate biosynthesis_Homo sapiens_hsa007900.65508783
94AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.65466116
95Staphylococcus aureus infection_Homo sapiens_hsa051500.63960311
96Arginine and proline metabolism_Homo sapiens_hsa003300.63040571
97Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.62662441
98mRNA surveillance pathway_Homo sapiens_hsa030150.61401132
99Toxoplasmosis_Homo sapiens_hsa051450.60992896
100ECM-receptor interaction_Homo sapiens_hsa045120.60269201
101Insulin resistance_Homo sapiens_hsa049310.60267347
102Inositol phosphate metabolism_Homo sapiens_hsa005620.60050259
103Hepatitis B_Homo sapiens_hsa051610.59767443
104Long-term potentiation_Homo sapiens_hsa047200.59571648
105HIF-1 signaling pathway_Homo sapiens_hsa040660.58876356
106Purine metabolism_Homo sapiens_hsa002300.57820161
107Cholinergic synapse_Homo sapiens_hsa047250.57156969
108Lysine degradation_Homo sapiens_hsa003100.56742709
109Pentose phosphate pathway_Homo sapiens_hsa000300.56648383
110Axon guidance_Homo sapiens_hsa043600.56247881
111Dopaminergic synapse_Homo sapiens_hsa047280.55619449
112Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.54642807
113Cocaine addiction_Homo sapiens_hsa050300.54180620
114MAPK signaling pathway_Homo sapiens_hsa040100.54061880
115Endocytosis_Homo sapiens_hsa041440.53824980
116Steroid hormone biosynthesis_Homo sapiens_hsa001400.53651411
117Sphingolipid signaling pathway_Homo sapiens_hsa040710.52591101
118Notch signaling pathway_Homo sapiens_hsa043300.51195180
119DNA replication_Homo sapiens_hsa030300.50841084
120Neurotrophin signaling pathway_Homo sapiens_hsa047220.50247860
121Gap junction_Homo sapiens_hsa045400.49766830
122Glycerophospholipid metabolism_Homo sapiens_hsa005640.49210290
123Cysteine and methionine metabolism_Homo sapiens_hsa002700.48588880
124Epstein-Barr virus infection_Homo sapiens_hsa051690.48440717
125HTLV-I infection_Homo sapiens_hsa051660.47021966
126Type II diabetes mellitus_Homo sapiens_hsa049300.46357265
127cAMP signaling pathway_Homo sapiens_hsa040240.46135612
128PI3K-Akt signaling pathway_Homo sapiens_hsa041510.44271975
129Caffeine metabolism_Homo sapiens_hsa002320.43416312
130Huntingtons disease_Homo sapiens_hsa050160.43344556
131Shigellosis_Homo sapiens_hsa051310.41732574
132Apoptosis_Homo sapiens_hsa042100.41032716
133Biosynthesis of amino acids_Homo sapiens_hsa012300.40962683
134Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.40270480
135Arginine biosynthesis_Homo sapiens_hsa002200.39978232
136Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39257920
137Systemic lupus erythematosus_Homo sapiens_hsa053220.38205225
138Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.36790468
139Tyrosine metabolism_Homo sapiens_hsa003500.36669760
140Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.35732348
141Sulfur metabolism_Homo sapiens_hsa009200.29971724
142Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.29615280
143Measles_Homo sapiens_hsa051620.27273972
144Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.27189587
145Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.24871793
146Proteasome_Homo sapiens_hsa030500.24415050
147Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23996144
148Autoimmune thyroid disease_Homo sapiens_hsa053200.20413366
149Phenylalanine metabolism_Homo sapiens_hsa003600.19568092
150Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.19137109
151Protein digestion and absorption_Homo sapiens_hsa049740.18417267
152Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.16913589
153Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.16784887
154Dilated cardiomyopathy_Homo sapiens_hsa054140.16535301
155Glycerolipid metabolism_Homo sapiens_hsa005610.16130528

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