CYB5R2

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





Description: The protein encoded by this gene belongs to the flavoprotein pyridine nucleotide cytochrome reductase family of proteins. Cytochrome b-type NAD(P)H oxidoreductases are implicated in many processes including cholesterol biosynthesis, fatty acid desaturation and elongation, and respiratory burst in neutrophils and macrophages. Cytochrome b5 reductases have soluble and membrane-bound forms that are the product of alternative splicing. In animal cells, the membrane-bound form binds to the endoplasmic reticulum, where it is a member of a fatty acid desaturation complex. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cell wall macromolecule catabolic process (GO:0016998)5.89926368
2cell wall macromolecule metabolic process (GO:0044036)5.89926368
3axon ensheathment in central nervous system (GO:0032291)5.81445445
4central nervous system myelination (GO:0022010)5.81445445
5cardiac myofibril assembly (GO:0055003)5.56230451
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.43495596
7multicellular organism reproduction (GO:0032504)5.39436580
8fusion of sperm to egg plasma membrane (GO:0007342)5.22454491
9myofibril assembly (GO:0030239)5.08189246
10sarcomere organization (GO:0045214)5.04287747
11reproduction (GO:0000003)4.53348579
12heart trabecula formation (GO:0060347)4.48777760
13actin-myosin filament sliding (GO:0033275)4.41682485
14muscle filament sliding (GO:0030049)4.41682485
15negative regulation of potassium ion transmembrane transport (GO:1901380)4.39545135
16fatty acid elongation (GO:0030497)4.37698437
17chromatin remodeling at centromere (GO:0031055)4.35887305
18rRNA methylation (GO:0031167)4.31148661
19piRNA metabolic process (GO:0034587)4.30161142
20histone exchange (GO:0043486)4.22844510
21regulation of skeletal muscle contraction (GO:0014819)4.19084699
22CENP-A containing nucleosome assembly (GO:0034080)4.18512470
23rRNA modification (GO:0000154)4.13519522
24cardiac muscle tissue morphogenesis (GO:0055008)4.10510212
25creatine metabolic process (GO:0006600)4.09714213
26sperm-egg recognition (GO:0035036)4.06831274
27cardiac muscle cell development (GO:0055013)4.06729304
28regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.99355561
29negative regulation of protein localization to cell surface (GO:2000009)3.99104828
30actin-mediated cell contraction (GO:0070252)3.93176057
31plasma membrane fusion (GO:0045026)3.92982196
32sperm capacitation (GO:0048240)3.87073358
33synapsis (GO:0007129)3.82341962
34regulation of gene silencing by miRNA (GO:0060964)3.81826878
35regulation of gene silencing by RNA (GO:0060966)3.81826878
36regulation of posttranscriptional gene silencing (GO:0060147)3.81826878
37cilium or flagellum-dependent cell motility (GO:0001539)3.79991240
38sperm motility (GO:0030317)3.77878026
39ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.75174682
40cardiac cell development (GO:0055006)3.74459301
41sarcoplasmic reticulum calcium ion transport (GO:0070296)3.73348850
42regulation of acyl-CoA biosynthetic process (GO:0050812)3.72285311
43regulation of mesoderm development (GO:2000380)3.72246650
44muscle tissue morphogenesis (GO:0060415)3.69337415
45somatic diversification of immune receptors via somatic mutation (GO:0002566)3.65668775
46somatic hypermutation of immunoglobulin genes (GO:0016446)3.65668775
47response to redox state (GO:0051775)3.64308955
48male meiosis (GO:0007140)3.63847983
49microtubule polymerization or depolymerization (GO:0031109)3.61780975
50regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.60877011
51single strand break repair (GO:0000012)3.60284099
52positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.57256772
53acrosome reaction (GO:0007340)3.55292879
54cell-cell recognition (GO:0009988)3.53501062
55regulation of actin filament-based movement (GO:1903115)3.51047912
56acrosome assembly (GO:0001675)3.50308630
57tricarboxylic acid cycle (GO:0006099)3.49944707
58cardiac muscle contraction (GO:0060048)3.48709034
59membrane tubulation (GO:0097320)3.45096482
60L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.44467630
61regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.44057199
62actomyosin structure organization (GO:0031032)3.41213156
63regulation of relaxation of muscle (GO:1901077)3.41104532
64negative regulation of skeletal muscle tissue development (GO:0048642)3.40919277
65establishment of protein localization to mitochondrial membrane (GO:0090151)3.37643218
66binding of sperm to zona pellucida (GO:0007339)3.37505085
67chaperone-mediated protein transport (GO:0072321)3.36741747
68DNA double-strand break processing (GO:0000729)3.35675311
69regulation of coenzyme metabolic process (GO:0051196)3.32586327
70regulation of cofactor metabolic process (GO:0051193)3.32586327
71labyrinthine layer development (GO:0060711)3.31905647
72negative regulation of DNA-dependent DNA replication (GO:2000104)3.31825364
73L-serine metabolic process (GO:0006563)3.27441660
74myelination (GO:0042552)3.24726100
75motile cilium assembly (GO:0044458)3.23207797
76otic vesicle formation (GO:0030916)3.22877983
77axon ensheathment (GO:0008366)3.20896159
78ensheathment of neurons (GO:0007272)3.20896159
79notochord development (GO:0030903)3.20742147
80proteasome assembly (GO:0043248)3.19191967
81regulation of sarcomere organization (GO:0060297)3.19160369
82anterior/posterior axis specification, embryo (GO:0008595)3.17589032
83glycerophospholipid catabolic process (GO:0046475)3.17106691
84cardiac muscle hypertrophy (GO:0003300)3.14354864
85response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.13964083
86regulation of mitotic spindle checkpoint (GO:1903504)3.13840363
87regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.13840363
88regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.13636738
89RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.13145013
90tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.13145013
91cell aggregation (GO:0098743)3.13077649
92cartilage condensation (GO:0001502)3.13077649
93ventricular cardiac muscle cell development (GO:0055015)3.11789838
94aspartate family amino acid catabolic process (GO:0009068)3.10779649
95centriole replication (GO:0007099)3.08718604
96ventricular cardiac muscle cell action potential (GO:0086005)3.07426641
97regulation of lipoprotein metabolic process (GO:0050746)3.06731329
98single fertilization (GO:0007338)3.05017075
99long-chain fatty acid biosynthetic process (GO:0042759)3.04438531
100DNA replication checkpoint (GO:0000076)3.03189377
101plasma membrane repair (GO:0001778)3.03162716
102striated muscle contraction (GO:0006941)3.02784102
103striated muscle hypertrophy (GO:0014897)3.02758159
104regulation of nuclear cell cycle DNA replication (GO:0033262)3.02120384
105water-soluble vitamin biosynthetic process (GO:0042364)3.01535860
106male meiosis I (GO:0007141)2.99784321
107regulation of cardioblast differentiation (GO:0051890)2.99772878
108synaptonemal complex assembly (GO:0007130)2.98671723
109synaptonemal complex organization (GO:0070193)2.98604363
110negative regulation of inclusion body assembly (GO:0090084)2.97951014
111regulation of cell fate specification (GO:0042659)2.96896885
112epithelial cilium movement (GO:0003351)2.96839495
113protein polyglutamylation (GO:0018095)2.96016613
114DNA replication-independent nucleosome assembly (GO:0006336)2.95610453
115DNA replication-independent nucleosome organization (GO:0034724)2.95610453
116microtubule severing (GO:0051013)2.94914164
117regulation of striated muscle contraction (GO:0006942)2.93457742
118chondrocyte development (GO:0002063)2.93237446
119trabecula formation (GO:0060343)2.93043037
120regulation of energy homeostasis (GO:2000505)2.92449345
121DNA replication-dependent nucleosome organization (GO:0034723)2.92378089
122DNA replication-dependent nucleosome assembly (GO:0006335)2.92378089
123DNA methylation involved in gamete generation (GO:0043046)2.91192134
124regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.90944068
125heart process (GO:0003015)2.90794330
126heart contraction (GO:0060047)2.90794330
127axonemal dynein complex assembly (GO:0070286)2.90392789
128DNA strand renaturation (GO:0000733)2.87224724
129regulation of sequestering of triglyceride (GO:0010889)2.86148406
130mitotic metaphase plate congression (GO:0007080)2.85808842
131spermatid nucleus differentiation (GO:0007289)2.85437625
132spermatid development (GO:0007286)2.83454067
133resolution of meiotic recombination intermediates (GO:0000712)2.81920380
134regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.81414388
135cilium movement (GO:0003341)2.81285494
136microtubule depolymerization (GO:0007019)2.81160728
137keratinization (GO:0031424)2.80436716
138negative regulation of neurotransmitter transport (GO:0051589)2.80309826
139IMP biosynthetic process (GO:0006188)2.80234871
140adult heart development (GO:0007512)2.80139254
141axoneme assembly (GO:0035082)2.79950382
142exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.79882428
143pseudouridine synthesis (GO:0001522)2.79864987
144DNA catabolic process, exonucleolytic (GO:0000738)2.79792917
145carnitine shuttle (GO:0006853)2.78456048
146regulation of cell fate commitment (GO:0010453)2.78055279
147regulation of meiosis I (GO:0060631)2.77576933
148cartilage development involved in endochondral bone morphogenesis (GO:0060351)2.77470419
149somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.76720725
150isotype switching (GO:0045190)2.76720725
151somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.76720725
152actin filament-based movement (GO:0030048)2.76586461
153DNA damage response, detection of DNA damage (GO:0042769)2.76572668
154female gonad development (GO:0008585)2.75994398
155regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.75548500
156regulation of cell communication by electrical coupling (GO:0010649)2.74233550
157platelet dense granule organization (GO:0060155)2.73383906
158nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.72842559
159epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.70338170
160replication fork processing (GO:0031297)2.65902162
161inner ear receptor cell development (GO:0060119)2.65719690
162protein complex biogenesis (GO:0070271)2.65164647
163double-strand break repair via homologous recombination (GO:0000724)2.62935459
164recombinational repair (GO:0000725)2.61878410
165mitochondrial RNA metabolic process (GO:0000959)2.61667941
166protein neddylation (GO:0045116)2.59711384
167mitochondrial respiratory chain complex assembly (GO:0033108)2.57309800
168response to X-ray (GO:0010165)2.56982901
169negative regulation of telomerase activity (GO:0051974)2.56932910
170lysine catabolic process (GO:0006554)2.56083556
171lysine metabolic process (GO:0006553)2.56083556
172respiratory chain complex IV assembly (GO:0008535)2.54440144
173establishment of integrated proviral latency (GO:0075713)2.53811078
174mitochondrial respiratory chain complex I assembly (GO:0032981)2.53676381
175NADH dehydrogenase complex assembly (GO:0010257)2.53676381
176mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.53676381
177reciprocal meiotic recombination (GO:0007131)2.53458781
178reciprocal DNA recombination (GO:0035825)2.53458781
179termination of RNA polymerase III transcription (GO:0006386)2.53018342
180transcription elongation from RNA polymerase III promoter (GO:0006385)2.53018342
181metaphase plate congression (GO:0051310)2.52985522
182protein localization to kinetochore (GO:0034501)2.52792660
183meiosis I (GO:0007127)2.50549520
184cullin deneddylation (GO:0010388)2.50232327
185regulation of helicase activity (GO:0051095)2.49251761
186protein deneddylation (GO:0000338)2.48659426
187histone mRNA metabolic process (GO:0008334)2.46228634
188regulation of translation, ncRNA-mediated (GO:0045974)2.43220000
189negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.43220000
190negative regulation of translation, ncRNA-mediated (GO:0040033)2.43220000
191purine nucleobase biosynthetic process (GO:0009113)2.43051820

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EP300_21415370_ChIP-Seq_HL-1_Mouse3.42873296
2KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.35334523
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.10809007
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.07367544
5MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.92528399
6EZH2_22144423_ChIP-Seq_EOC_Human2.89065057
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.64708161
8PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.45859710
9HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.43819709
10EST1_17652178_ChIP-ChIP_JURKAT_Human2.41372487
11E2F4_17652178_ChIP-ChIP_JURKAT_Human2.32007997
12RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.29591469
13FLI1_27457419_Chip-Seq_LIVER_Mouse2.21678878
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.20598248
15POU5F1_16153702_ChIP-ChIP_HESCs_Human2.18830077
16E2F7_22180533_ChIP-Seq_HELA_Human2.08224635
17PCGF2_27294783_Chip-Seq_ESCs_Mouse2.06801602
18P300_19829295_ChIP-Seq_ESCs_Human1.96442450
19EWS_26573619_Chip-Seq_HEK293_Human1.87253468
20MYC_18940864_ChIP-ChIP_HL60_Human1.87094609
21* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.86699179
22FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.84762105
23ZFP57_27257070_Chip-Seq_ESCs_Mouse1.83022598
24CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.81127717
25GATA1_26923725_Chip-Seq_HPCs_Mouse1.79232450
26VDR_22108803_ChIP-Seq_LS180_Human1.78295117
27JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.76114654
28GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.75066720
29NANOG_16153702_ChIP-ChIP_HESCs_Human1.74302260
30ELK1_19687146_ChIP-ChIP_HELA_Human1.73658957
31AR_21572438_ChIP-Seq_LNCaP_Human1.72978510
32EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.72429859
33ETS1_20019798_ChIP-Seq_JURKAT_Human1.70777191
34AR_21909140_ChIP-Seq_LNCAP_Human1.70314121
35* TBX20_22080862_ChIP-Seq_HEART_Mouse1.67273085
36* TBX20_22328084_ChIP-Seq_HEART_Mouse1.67273085
37* SOX2_16153702_ChIP-ChIP_HESCs_Human1.66618910
38MYC_18555785_ChIP-Seq_MESCs_Mouse1.61274813
39ZNF274_21170338_ChIP-Seq_K562_Hela1.60495016
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.60261075
41ESR2_21235772_ChIP-Seq_MCF-7_Human1.59838066
42MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.57083829
43PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.56098565
44OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.55618565
45KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.54840830
46FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.53919071
47TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.52999481
48ER_23166858_ChIP-Seq_MCF-7_Human1.51500241
49ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.50018889
50EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.49239402
51ZNF263_19887448_ChIP-Seq_K562_Human1.46385770
52ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.45853213
53GBX2_23144817_ChIP-Seq_PC3_Human1.44418783
54UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.43013483
55CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.42976668
56POU3F2_20337985_ChIP-ChIP_501MEL_Human1.42423383
57ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.41679527
58MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40540525
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.39223425
60TBL1_22424771_ChIP-Seq_293T_Human1.39023797
61* FUS_26573619_Chip-Seq_HEK293_Human1.38281887
62TRIM28_21343339_ChIP-Seq_HEK293_Human1.38277607
63GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.37786919
64CTBP1_25329375_ChIP-Seq_LNCAP_Human1.37683628
65TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36925331
66CBX2_27304074_Chip-Seq_ESCs_Mouse1.36101219
67NANOG_19829295_ChIP-Seq_ESCs_Human1.34430248
68SOX2_19829295_ChIP-Seq_ESCs_Human1.34430248
69RBPJ_22232070_ChIP-Seq_NCS_Mouse1.34242565
70SALL4_18804426_ChIP-ChIP_XEN_Mouse1.33192259
71ESR1_20079471_ChIP-ChIP_T-47D_Human1.32410070
72PADI4_21655091_ChIP-ChIP_MCF-7_Human1.30927883
73VDR_23849224_ChIP-Seq_CD4+_Human1.30180266
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.28967880
75CTBP2_25329375_ChIP-Seq_LNCAP_Human1.28666437
76PCGF2_27294783_Chip-Seq_NPCs_Mouse1.27814127
77MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.27628043
78MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.27337937
79TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26376266
80STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.26016902
81PPAR_26484153_Chip-Seq_NCI-H1993_Human1.25807932
82FOXP3_21729870_ChIP-Seq_TREG_Human1.25349952
83PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.24678793
84FOXA1_27270436_Chip-Seq_PROSTATE_Human1.24415319
85FOXA1_25329375_ChIP-Seq_VCAP_Human1.24415319
86AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.24133963
87TAL1_26923725_Chip-Seq_HPCs_Mouse1.24078798
88MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.23774447
89TP53_16413492_ChIP-PET_HCT116_Human1.23757649
90SOX2_18555785_ChIP-Seq_MESCs_Mouse1.21026281
91NFYA_21822215_ChIP-Seq_K562_Human1.20834266
92SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20747318
93AUTS2_25519132_ChIP-Seq_293T-REX_Human1.18220792
94PHF8_20622853_ChIP-Seq_HELA_Human1.17695081
95EZH2_27294783_Chip-Seq_NPCs_Mouse1.17561593
96CJUN_26792858_Chip-Seq_BT549_Human1.17449348
97BCAT_22108803_ChIP-Seq_LS180_Human1.17321444
98CRX_20693478_ChIP-Seq_RETINA_Mouse1.16801795
99HOXB7_26014856_ChIP-Seq_BT474_Human1.16354780
100TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.15450541
101TCF4_22108803_ChIP-Seq_LS180_Human1.15448300
102TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.15132900
103MYC_19030024_ChIP-ChIP_MESCs_Mouse1.14593857
104SALL1_21062744_ChIP-ChIP_HESCs_Human1.14217660
105TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14138767
106CREB1_15753290_ChIP-ChIP_HEK293T_Human1.14130012
107* NFYB_21822215_ChIP-Seq_K562_Human1.13901325
108POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.13497261
109TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.13497261
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.12282845
111JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12272387
112NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.12112517
113FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11500369
114IGF1R_20145208_ChIP-Seq_DFB_Human1.11143577
115KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.10378800
116KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.10378800
117KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.10378800
118KAP1_22055183_ChIP-Seq_ESCs_Mouse1.10207284
119* E2F1_18555785_ChIP-Seq_MESCs_Mouse1.09366501
120NR3C1_21868756_ChIP-Seq_MCF10A_Human1.09101003
121TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08205582
122SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.08200511
123SMAD4_21741376_ChIP-Seq_EPCs_Human1.07862685
124MYC_19079543_ChIP-ChIP_MESCs_Mouse1.07691337
125SMAD3_21741376_ChIP-Seq_HESCs_Human1.06811688
126ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.06604038
127IRF1_19129219_ChIP-ChIP_H3396_Human1.06524873
128SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.05857913
129KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05830571
130E2F1_21310950_ChIP-Seq_MCF-7_Human1.05264351
131* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.05009322
132NFE2_27457419_Chip-Seq_LIVER_Mouse1.02962005
133RUNX2_22187159_ChIP-Seq_PCA_Human1.02912338
134LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02168013
135FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.02152127
136NANOG_18555785_Chip-Seq_ESCs_Mouse1.01786997
137CDX2_22108803_ChIP-Seq_LS180_Human1.01492319
138CBP_20019798_ChIP-Seq_JUKART_Human1.01191128
139IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.01191128
140POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.01174661
141FLI1_21867929_ChIP-Seq_TH2_Mouse1.00634004
142NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.99643969
143TCF4_23295773_ChIP-Seq_U87_Human0.99505298
144GF1_26923725_Chip-Seq_HPCs_Mouse0.98937067
145* CBP_21632823_ChIP-Seq_H3396_Human0.98900783
146FOXM1_23109430_ChIP-Seq_U2OS_Human0.97792152
147NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.97679541
148SRF_21415370_ChIP-Seq_HL-1_Mouse0.97570589
149* PIAS1_25552417_ChIP-Seq_VCAP_Human0.97507575
150NCOR_22424771_ChIP-Seq_293T_Human0.97451081
151STAT1_17558387_ChIP-Seq_HELA_Human0.97345912
152GF1B_26923725_Chip-Seq_HPCs_Mouse0.96679436
153PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.96588109
154CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.96484325
155RBPJ_21746931_ChIP-Seq_IB4_Human0.96459978
156PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.95940642
157TTF2_22483619_ChIP-Seq_HELA_Human0.95317475
158SMAD4_21799915_ChIP-Seq_A2780_Human0.95054705
159GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.94971261
160SOX2_18555785_Chip-Seq_ESCs_Mouse0.94239641
161NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.94095693
162STAT3_23295773_ChIP-Seq_U87_Human0.94066949
163SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.93383767
164CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.93109807
165KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.92883533
166TAF15_26573619_Chip-Seq_HEK293_Human0.92371267
167MYC_18358816_ChIP-ChIP_MESCs_Mouse0.92298006
168* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.92244343
169FOXM1_26456572_ChIP-Seq_MCF-7_Human0.92062937
170BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.91924000
171ETV1_20927104_ChIP-Seq_GIST48_Human0.91646576
172* HNFA_21074721_ChIP-Seq_CACO-2_Human0.91504955
173NANOG_20526341_ChIP-Seq_ESCs_Human0.91360199
174AR_25329375_ChIP-Seq_VCAP_Human0.90792118
175STAT3_18555785_Chip-Seq_ESCs_Mouse0.90704749
176KDM2B_26808549_Chip-Seq_REH_Human0.90580123

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue5.87179818
2MP0005377_hearing/vestibular/ear_phenot4.63150573
3MP0003878_abnormal_ear_physiology4.63150573
4MP0000751_myopathy4.14279692
5MP0004084_abnormal_cardiac_muscle4.11752931
6MP0002837_dystrophic_cardiac_calcinosis3.97929498
7MP0004036_abnormal_muscle_relaxation3.61047072
8MP0005410_abnormal_fertilization3.56474432
9MP0003950_abnormal_plasma_membrane3.50425738
10MP0002254_reproductive_system_inflammat3.38741182
11MP0003941_abnormal_skin_development3.34970126
12MP0000749_muscle_degeneration3.24760209
13MP0004215_abnormal_myocardial_fiber2.91319711
14MP0008058_abnormal_DNA_repair2.68224588
15MP0005330_cardiomyopathy2.61889769
16MP0006292_abnormal_olfactory_placode2.40657686
17MP0004484_altered_response_of2.39398193
18MP0000750_abnormal_muscle_regeneration2.36156697
19MP0003693_abnormal_embryo_hatching2.30986405
20MP0004087_abnormal_muscle_fiber2.30883599
21MP0002938_white_spotting2.19756001
22MP0002106_abnormal_muscle_physiology2.18284351
23MP0006138_congestive_heart_failure2.14876306
24MP0002972_abnormal_cardiac_muscle2.13500884
25MP0010030_abnormal_orbit_morphology2.13493423
26MP0005620_abnormal_muscle_contractility2.13420641
27MP0004145_abnormal_muscle_electrophysio2.07569972
28MP0000747_muscle_weakness2.01940729
29MP0002269_muscular_atrophy1.99944699
30MP0004233_abnormal_muscle_weight1.97285570
31MP0000579_abnormal_nail_morphology1.93595609
32MP0005369_muscle_phenotype1.90419180
33MP0005171_absent_coat_pigmentation1.83849796
34MP0008775_abnormal_heart_ventricle1.80317558
35MP0005451_abnormal_body_composition1.79909254
36MP0010094_abnormal_chromosome_stability1.79225519
37MP0000759_abnormal_skeletal_muscle1.78345312
38MP0003718_maternal_effect1.78306942
39MP0004134_abnormal_chest_morphology1.78164182
40MP0002102_abnormal_ear_morphology1.75331350
41MP0001293_anophthalmia1.73249168
42MP0003137_abnormal_impulse_conducting1.70791983
43MP0003890_abnormal_embryonic-extraembry1.69825078
44MP0000920_abnormal_myelination1.68098835
45MP0004957_abnormal_blastocyst_morpholog1.66229544
46MP0004133_heterotaxia1.66085478
47MP0010630_abnormal_cardiac_muscle1.65791358
48MP0003221_abnormal_cardiomyocyte_apopto1.64134014
49MP0005385_cardiovascular_system_phenoty1.62663275
50MP0001544_abnormal_cardiovascular_syste1.62663275
51MP0002736_abnormal_nociception_after1.61622928
52MP0004185_abnormal_adipocyte_glucose1.59236774
53MP0002796_impaired_skin_barrier1.50347055
54MP0003119_abnormal_digestive_system1.49715453
55MP0002160_abnormal_reproductive_system1.49492678
56MP0003011_delayed_dark_adaptation1.48134511
57MP0000647_abnormal_sebaceous_gland1.46974588
58MP0003806_abnormal_nucleotide_metabolis1.46041679
59MP0000762_abnormal_tongue_morphology1.45781552
60MP0004085_abnormal_heartbeat1.42372891
61MP0006072_abnormal_retinal_apoptosis1.38733645
62MP0005666_abnormal_adipose_tissue1.38478548
63MP0008789_abnormal_olfactory_epithelium1.36587173
64MP0003111_abnormal_nucleus_morphology1.35044416
65MP0004130_abnormal_muscle_cell1.34139449
66MP0002282_abnormal_trachea_morphology1.34042235
67MP0005670_abnormal_white_adipose1.33978578
68MP0005623_abnormal_meninges_morphology1.33831917
69MP0001929_abnormal_gametogenesis1.33384710
70MP0005551_abnormal_eye_electrophysiolog1.32174461
71MP0003698_abnormal_male_reproductive1.32173084
72MP0000383_abnormal_hair_follicle1.31741079
73MP0008932_abnormal_embryonic_tissue1.25458984
74MP0005275_abnormal_skin_tensile1.25111147
75MP0002127_abnormal_cardiovascular_syste1.25086918
76MP0009250_abnormal_appendicular_skeleto1.23975926
77MP0002332_abnormal_exercise_endurance1.21806773
78MP0002108_abnormal_muscle_morphology1.21727741
79MP0005084_abnormal_gallbladder_morpholo1.21005095
80MP0001486_abnormal_startle_reflex1.20714891
81MP0008995_early_reproductive_senescence1.19591904
82MP0008007_abnormal_cellular_replicative1.17714227
83MP0003077_abnormal_cell_cycle1.17372487
84MP0002233_abnormal_nose_morphology1.17300155
85MP0003567_abnormal_fetal_cardiomyocyte1.16904335
86MP0003329_amyloid_beta_deposits1.15468127
87MP0003786_premature_aging1.14605467
88MP0009384_cardiac_valve_regurgitation1.14123851
89MP0000733_abnormal_muscle_development1.12696121
90MP0000049_abnormal_middle_ear1.12572155
91MP0005253_abnormal_eye_physiology1.09110520
92MP0001984_abnormal_olfaction1.07081496
93MP0004270_analgesia1.06146332
94MP0003186_abnormal_redox_activity1.04938119
95MP0004885_abnormal_endolymph1.04863910
96MP0010386_abnormal_urinary_bladder1.03169227
97MP0001968_abnormal_touch/_nociception1.02812600
98MP0000372_irregular_coat_pigmentation1.02356229
99MP0006036_abnormal_mitochondrial_physio1.01733606
100MP0001286_abnormal_eye_development0.98892247
101MP0005367_renal/urinary_system_phenotyp0.96721782
102MP0000516_abnormal_urinary_system0.96721782
103MP0005389_reproductive_system_phenotype0.95812432
104MP0008877_abnormal_DNA_methylation0.94734744
105MP0002933_joint_inflammation0.93958867
106MP0004019_abnormal_vitamin_homeostasis0.93533254
107MP0005503_abnormal_tendon_morphology0.93222474
108MP0000427_abnormal_hair_cycle0.92842405
109MP0004043_abnormal_pH_regulation0.91616354
110MP0001299_abnormal_eye_distance/0.91122360
111MP0008057_abnormal_DNA_replication0.90114822
112MP0009672_abnormal_birth_weight0.89787632
113MP0003880_abnormal_central_pattern0.88695920
114MP0002111_abnormal_tail_morphology0.87340744
115MP0001905_abnormal_dopamine_level0.84125210
116MP0002653_abnormal_ependyma_morphology0.83484432
117MP0000026_abnormal_inner_ear0.82296579
118MP0002210_abnormal_sex_determination0.81199756
119MP0003195_calcinosis0.81130226
120MP0005375_adipose_tissue_phenotype0.80606073
121MP0008872_abnormal_physiological_respon0.80389679
122MP0002161_abnormal_fertility/fecundity0.80209998
123MP0009046_muscle_twitch0.79938385
124MP0005501_abnormal_skin_physiology0.79904150
125MP0002085_abnormal_embryonic_tissue0.79082281
126MP0003828_pulmonary_edema0.78772723
127MP0000163_abnormal_cartilage_morphology0.78166168
128MP0001485_abnormal_pinna_reflex0.77511310
129MP0002697_abnormal_eye_size0.77317118
130MP0004510_myositis0.77151923
131MP0001529_abnormal_vocalization0.76283037
132MP0001119_abnormal_female_reproductive0.75919693
133MP0003936_abnormal_reproductive_system0.75718121
134MP0009840_abnormal_foam_cell0.75434021
135MP0000631_abnormal_neuroendocrine_gland0.75128901
136MP0001188_hyperpigmentation0.75031037
137MP0002095_abnormal_skin_pigmentation0.74341993
138MP0005499_abnormal_olfactory_system0.74178034
139MP0005394_taste/olfaction_phenotype0.74178034
140MP0002751_abnormal_autonomic_nervous0.73117078
141MP0002084_abnormal_developmental_patter0.71695479
142MP0005174_abnormal_tail_pigmentation0.71627194
143MP0008875_abnormal_xenobiotic_pharmacok0.71372754
144MP0010678_abnormal_skin_adnexa0.71331396
145MP0010771_integument_phenotype0.70665587
146MP0003937_abnormal_limbs/digits/tail_de0.70160077
147MP0001963_abnormal_hearing_physiology0.69360846
148MP0000266_abnormal_heart_morphology0.68823087
149MP0003279_aneurysm0.67284812
150MP0004272_abnormal_basement_membrane0.65426594
151MP0005408_hypopigmentation0.65332531
152MP0002234_abnormal_pharynx_morphology0.63590652
153MP0000653_abnormal_sex_gland0.63343939
154MP0003136_yellow_coat_color0.63316185
155MP0005266_abnormal_metabolism0.63215866
156MP0003690_abnormal_glial_cell0.63142198
157MP0009780_abnormal_chondrocyte_physiolo0.61873735
158MP0005508_abnormal_skeleton_morphology0.61326253
159MP0001145_abnormal_male_reproductive0.59301426
160MP0005187_abnormal_penis_morphology0.59095192
161MP0000343_altered_response_to0.58705838
162MP0003755_abnormal_palate_morphology0.56605197
163MP0002249_abnormal_larynx_morphology0.52326981
164MP0002295_abnormal_pulmonary_circulatio0.52086081
165MP0003656_abnormal_erythrocyte_physiolo0.50357217
166MP0002115_abnormal_skeleton_extremities0.49576837
167MP0003984_embryonic_growth_retardation0.49564276
168MP0005395_other_phenotype0.49189948
169MP0002128_abnormal_blood_circulation0.49143544
170MP0001672_abnormal_embryogenesis/_devel0.48232950
171MP0005380_embryogenesis_phenotype0.48232950
172MP0000462_abnormal_digestive_system0.47336800
173MP0003699_abnormal_female_reproductive0.47071355
174MP0003123_paternal_imprinting0.46248887

Predicted human phenotypes

RankGene SetZ-score
1Hypoplastic ischia (HP:0003175)6.50241091
2Irregular epiphyses (HP:0010582)6.27647252
3Abnormality of the ischium (HP:0003174)5.70917789
4Vitreoretinal degeneration (HP:0000655)5.35851594
5Epiphyseal dysplasia (HP:0002656)5.31239485
6Muscle fiber splitting (HP:0003555)5.14750265
7Exercise-induced muscle cramps (HP:0003710)4.47475245
8Muscle hypertrophy of the lower extremities (HP:0008968)4.34728674
9Aplasia/Hypoplasia of the pubic bone (HP:0009104)4.31799615
10Small epiphyses (HP:0010585)4.27720068
11Calf muscle hypertrophy (HP:0008981)4.27260545
12Sudden death (HP:0001699)3.98743370
13Exercise-induced myalgia (HP:0003738)3.94282467
14Hyporeflexia of lower limbs (HP:0002600)3.73090688
15Birth length less than 3rd percentile (HP:0003561)3.72545642
16Abnormality of the labia minora (HP:0012880)3.70125124
17Colon cancer (HP:0003003)3.59737207
18Abnormality of the calf musculature (HP:0001430)3.58624084
19Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.40934368
20Difficulty running (HP:0009046)3.38207642
21Ventricular tachycardia (HP:0004756)3.33234180
22Flat capital femoral epiphysis (HP:0003370)3.22674765
23Atrial fibrillation (HP:0005110)3.19500136
24Cupped ribs (HP:0000887)3.14203013
25True hermaphroditism (HP:0010459)3.11022499
26Abnormal respiratory motile cilium morphology (HP:0005938)3.07822987
27Abnormal respiratory epithelium morphology (HP:0012253)3.07822987
28Pancreatic fibrosis (HP:0100732)3.04939390
29Abnormality of the phalanges of the 2nd finger (HP:0009541)3.01444161
30Dynein arm defect of respiratory motile cilia (HP:0012255)2.96028266
31Absent/shortened dynein arms (HP:0200106)2.96028266
32Abnormal ciliary motility (HP:0012262)2.95410470
33Delayed epiphyseal ossification (HP:0002663)2.92210931
34Absent epiphyses (HP:0010577)2.88271885
35Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.88271885
36Primary atrial arrhythmia (HP:0001692)2.87411525
37Pancreatic cysts (HP:0001737)2.84597281
38Increased connective tissue (HP:0009025)2.78872995
39Flattened epiphyses (HP:0003071)2.76472039
40Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.76431421
41Abnormality of femoral epiphyses (HP:0006499)2.76431421
42EMG: myopathic abnormalities (HP:0003458)2.75528851
43Genu varum (HP:0002970)2.72459068
44Septo-optic dysplasia (HP:0100842)2.72020291
45Molar tooth sign on MRI (HP:0002419)2.69816696
46Abnormality of midbrain morphology (HP:0002418)2.69816696
47Supraventricular tachycardia (HP:0004755)2.69420585
48Myoglobinuria (HP:0002913)2.69067567
49Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.68394805
50Degeneration of the lateral corticospinal tracts (HP:0002314)2.68394805
51Lipoatrophy (HP:0100578)2.63488144
52Chromosomal breakage induced by crosslinking agents (HP:0003221)2.63243718
53Supraventricular arrhythmia (HP:0005115)2.61095263
54Nephronophthisis (HP:0000090)2.60144615
55Abnormality of the left ventricular outflow tract (HP:0011103)2.55633996
56Subaortic stenosis (HP:0001682)2.55633996
57Neurofibrillary tangles (HP:0002185)2.55520887
58Meckel diverticulum (HP:0002245)2.54762946
59Hypoplastic labia majora (HP:0000059)2.51412162
60Syncope (HP:0001279)2.47956099
61Mild short stature (HP:0003502)2.47554967
62Abnormality of the ileum (HP:0001549)2.46632087
63Gowers sign (HP:0003391)2.45709856
64Hyperglycinuria (HP:0003108)2.45055254
65Aplasia/Hypoplasia of the uvula (HP:0010293)2.43891696
66Chromsome breakage (HP:0040012)2.43430663
67Labial hypoplasia (HP:0000066)2.39829276
68Hypoplastic female external genitalia (HP:0012815)2.38230396
69Abnormality of the epiphysis of the femoral head (HP:0010574)2.37875193
70Bilateral microphthalmos (HP:0007633)2.36711173
71Hyperglycinemia (HP:0002154)2.35138415
72Hip contracture (HP:0003273)2.34596027
73Abnormality of abdominal situs (HP:0011620)2.30711266
74Abdominal situs inversus (HP:0003363)2.30711266
75Muscle fiber inclusion bodies (HP:0100299)2.30665667
76Abnormality of the femoral head (HP:0003368)2.30012295
77Type 1 muscle fiber predominance (HP:0003803)2.29091975
78Rhinitis (HP:0012384)2.28214735
79Abnormal lung lobation (HP:0002101)2.27130918
80Chronic hepatic failure (HP:0100626)2.25537913
81Chronic bronchitis (HP:0004469)2.25480890
82Carpal bone hypoplasia (HP:0001498)2.25398915
83Abnormal tarsal ossification (HP:0008369)2.25112050
84Abnormality of the labia majora (HP:0012881)2.24423886
85Anophthalmia (HP:0000528)2.23746179
86Arthropathy (HP:0003040)2.23545978
87Dilated cardiomyopathy (HP:0001644)2.23309656
88Abnormality of the pubic bones (HP:0003172)2.22994027
89Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.20710490
90Abnormality of glycine metabolism (HP:0010895)2.20476325
91Abnormality of serine family amino acid metabolism (HP:0010894)2.20476325
92Ventricular arrhythmia (HP:0004308)2.18641764
93Maternal diabetes (HP:0009800)2.18612159
94Abnormality of the vitreous humor (HP:0004327)2.17515509
95Abnormality of serum amino acid levels (HP:0003112)2.16812380
96Ependymoma (HP:0002888)2.16094769
97Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.15990772
98Rhabdomyolysis (HP:0003201)2.15402631
99Supernumerary spleens (HP:0009799)2.14712298
100Protuberant abdomen (HP:0001538)2.14706744
101Waddling gait (HP:0002515)2.13803062
102Acute encephalopathy (HP:0006846)2.13769939
103Round ear (HP:0100830)2.13521264
104Stenosis of the external auditory canal (HP:0000402)2.13044964
105Difficulty climbing stairs (HP:0003551)2.12636435
106Anencephaly (HP:0002323)2.12468190
107Abnormality of the vertebral endplates (HP:0005106)2.12456562
108Sclerocornea (HP:0000647)2.11791980
109Congenital, generalized hypertrichosis (HP:0004540)2.09787329
110Abnormality of the renal medulla (HP:0100957)2.09578062
111Acute necrotizing encephalopathy (HP:0006965)2.07434444
112Abolished electroretinogram (ERG) (HP:0000550)2.06397778
113Small hand (HP:0200055)2.06351287
114Methylmalonic acidemia (HP:0002912)2.06112669
115Limited hip movement (HP:0008800)2.05198727
116Small intestinal stenosis (HP:0012848)2.04822116
117Duodenal stenosis (HP:0100867)2.04822116
118Right ventricular cardiomyopathy (HP:0011663)2.03549569
119Breast aplasia (HP:0100783)2.02910258
120Abnormality of the preputium (HP:0100587)2.02864210
121Ectopic kidney (HP:0000086)2.02701870
122Metaphyseal cupping (HP:0003021)2.02123316
123Thin ribs (HP:0000883)2.01162897
124Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.00605617
125Abnormality of alanine metabolism (HP:0010916)2.00605617
126Hyperalaninemia (HP:0003348)2.00605617
127Oral leukoplakia (HP:0002745)2.00334570
128Ventricular fibrillation (HP:0001663)2.00251028
129Myotonia (HP:0002486)2.00219201
130Optic nerve hypoplasia (HP:0000609)1.99952718
131Flat acetabular roof (HP:0003180)1.99811652
132Retinal dysplasia (HP:0007973)1.99536914
133Foot dorsiflexor weakness (HP:0009027)1.98430005
134Muscular dystrophy (HP:0003560)1.96539794
135Cerebral inclusion bodies (HP:0100314)1.95834964
136Patent foramen ovale (HP:0001655)1.95114030
137Abnormality of the duodenum (HP:0002246)1.95016770
138Breast hypoplasia (HP:0003187)1.93741002
139Bifid tongue (HP:0010297)1.93599035
140Aplasia/Hypoplasia of the tongue (HP:0010295)1.93370560
141Osteoarthritis (HP:0002758)1.92885675
142Stillbirth (HP:0003826)1.92471075
143Intestinal atresia (HP:0011100)1.92170083
144Medial flaring of the eyebrow (HP:0010747)1.91301378
145Sloping forehead (HP:0000340)1.91098434
146Spinal rigidity (HP:0003306)1.90223449
147Severe Myopia (HP:0011003)1.89438185
148Hypoplastic pelvis (HP:0008839)1.89142458
149Bundle branch block (HP:0011710)1.87574419
150Attenuation of retinal blood vessels (HP:0007843)1.86948964
151Asymmetric septal hypertrophy (HP:0001670)1.86829994
152Abnormality of aspartate family amino acid metabolism (HP:0010899)1.86816684
153Abnormality of the labia (HP:0000058)1.86478087
154Aplasia/Hypoplasia of the breasts (HP:0010311)1.86041322
155Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.85901951
156Abnormality of the foot musculature (HP:0001436)1.85052503
157Left ventricular hypertrophy (HP:0001712)1.83682609
158Muscle stiffness (HP:0003552)1.83259931
159Absent radius (HP:0003974)1.83050782
160Absent thumb (HP:0009777)1.82947512
161Increased serum pyruvate (HP:0003542)1.82104063
162Abnormality of glycolysis (HP:0004366)1.82104063
163Abnormality of chromosome stability (HP:0003220)1.82041722
164Preaxial hand polydactyly (HP:0001177)1.81001134
165Pendular nystagmus (HP:0012043)1.80928894
166Abnormality of nail color (HP:0100643)1.80909486
167Insidious onset (HP:0003587)1.80848994
168Termporal pattern (HP:0011008)1.80848994
169Ulnar bowing (HP:0003031)1.80457527
170Abnormal respiratory motile cilium physiology (HP:0012261)1.80428417
171Aplasia involving forearm bones (HP:0009822)1.80361491
172Absent forearm bone (HP:0003953)1.80361491
173Abnormality of homocysteine metabolism (HP:0010919)1.80293454
174Homocystinuria (HP:0002156)1.80293454
175Patellar aplasia (HP:0006443)1.79434180
176Increased variability in muscle fiber diameter (HP:0003557)1.79329162
177Barrel-shaped chest (HP:0001552)1.79098203
178Abnormality of methionine metabolism (HP:0010901)1.78783581
179Distal lower limb muscle weakness (HP:0009053)1.78498859
180Neck muscle weakness (HP:0000467)1.78024043
181Type I transferrin isoform profile (HP:0003642)1.77797089
182Atrioventricular block (HP:0001678)1.77683366
183Erythroderma (HP:0001019)1.77522505
184Male pseudohermaphroditism (HP:0000037)1.76908556
185Abnormal biliary tract physiology (HP:0012439)1.76759371
186Bile duct proliferation (HP:0001408)1.76759371
187Horseshoe kidney (HP:0000085)1.76392071
188Duplicated collecting system (HP:0000081)1.76069581
189Triphalangeal thumb (HP:0001199)1.75614046
190Vaginal atresia (HP:0000148)1.75013639
191Genital tract atresia (HP:0001827)1.74590466

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PDK44.44392768
2PDK34.44392768
3STK393.27697580
4MAPKAPK53.20039431
5OBSCN3.18045106
6PDK23.16234334
7TTN2.89206196
8MUSK2.80541119
9TSSK62.58093952
10VRK22.57097516
11STK242.55194930
12STK38L2.52270840
13PRKD32.43540798
14WNK32.38670046
15MKNK22.37072201
16BMPR1B2.36516558
17LATS12.15087454
18TNIK2.13791636
19CDC72.08880932
20TRIM282.07631608
21PHKG22.02657103
22PHKG12.02657103
23ACVR1B1.98604191
24WEE11.95098305
25VRK11.94095835
26GRK11.94067129
27INSRR1.92391186
28FRK1.91573721
29EPHB11.91238098
30TIE11.88780255
31MET1.84638447
32DDR21.76581057
33MAP3K31.75966868
34DMPK1.71000718
35MKNK11.69362137
36TAF11.62051437
37PBK1.58794059
38CDK191.54169177
39STK31.52261542
40PIK3CA1.51571108
41TTK1.49204575
42TGFBR11.48818285
43LATS21.46814033
44ADRBK21.46445061
45GRK71.44315318
46BUB11.42502400
47EPHA21.42051007
48ARAF1.41531604
49BRSK21.41192785
50PKN11.40195203
51PINK11.38542268
52MAPK151.35836147
53NEK21.35323676
54TLK11.34599836
55EIF2AK31.31148691
56BRAF1.30210375
57MST41.28053524
58OXSR11.27629576
59STK161.26777689
60PLK11.26316981
61WNK41.25286456
62PNCK1.18118056
63MAP3K41.16600379
64LMTK21.10882698
65MAP4K21.04641982
66MOS1.03962357
67NEK11.02637286
68CAMK2D0.99415608
69KSR20.98648201
70ERBB40.96614315
71PRKD10.90167310
72MAPK120.84927537
73EPHA40.84461131
74PRKAA20.78203492
75PAK30.76499954
76SRPK10.75260784
77NME10.73438768
78TRPM70.73219148
79CAMK2A0.72661896
80CAMK1G0.72052776
81PAK60.70234904
82STK100.70182641
83WNK10.69969670
84ROCK20.68844809
85PRKG20.68796130
86MELK0.68679859
87ADRBK10.67992329
88MAP3K120.66848855
89MAP3K60.65803489
90MYLK0.65599701
91PRKCG0.64499310
92PLK40.64453124
93CHEK20.64324453
94BCKDK0.62646349
95AURKB0.62252288
96NTRK10.61727030
97DYRK20.60304817
98MAP3K80.59387595
99NLK0.58106906
100MARK30.58067267
101ATR0.57020913
102PTK2B0.56956454
103PASK0.56790063
104NEK60.56626442
105MAP3K50.55663128
106CAMK2G0.54577977
107BRSK10.53097157
108FGFR10.52192513
109CSNK1G10.50086994
110EIF2AK20.49628106
111RPS6KA50.49334156
112PRKCE0.47279977
113PRKAA10.46806621
114CASK0.46467591
115CAMK2B0.46167998
116PLK20.46104142
117PRKCI0.45978341
118CDK70.45142884
119PRKACB0.44771827
120CAMK1D0.44446503
121ATM0.43990451
122ICK0.43640583
123DYRK30.42293134
124RAF10.42206342
125MAP3K90.41593518
126BCR0.40676311
127FGFR20.39806010
128FLT30.38983479
129PDK10.38709156
130PDPK10.37617887
131MST1R0.37200605
132STK380.36498396
133MARK20.36481566
134CDK90.35734904
135MAPKAPK30.34747241
136CSNK1A10.34345050
137SGK4940.34150225
138SGK2230.34150225
139MAP2K30.33666899
140CAMK10.33542843
141PRKACA0.32629048
142AKT30.32438337
143GSK3A0.32342778
144ROCK10.31932283
145PAK10.31570199
146ZAK0.31221559
147CSNK2A10.30503822
148CSNK1E0.30203359
149NUAK10.29515305
150CSNK1D0.29394479
151CHEK10.28251368
152PRKG10.26502851
153STK40.25771418
154PLK30.25283970
155MINK10.24307410
156AURKA0.23952904
157MAPK70.22643307

Predicted pathways (KEGG)

RankGene SetZ-score
1Fatty acid elongation_Homo sapiens_hsa000623.61729961
2Propanoate metabolism_Homo sapiens_hsa006403.38905451
3Cardiac muscle contraction_Homo sapiens_hsa042603.14629562
4Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.11749837
5Proteasome_Homo sapiens_hsa030503.09077981
6Vitamin B6 metabolism_Homo sapiens_hsa007502.83884529
7Homologous recombination_Homo sapiens_hsa034402.56750645
8RNA polymerase_Homo sapiens_hsa030202.52698461
9Dilated cardiomyopathy_Homo sapiens_hsa054142.48564640
10Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054102.47690425
11Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.35836817
12Mismatch repair_Homo sapiens_hsa034302.31536528
13One carbon pool by folate_Homo sapiens_hsa006702.31501534
14Fanconi anemia pathway_Homo sapiens_hsa034602.31398733
152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.21435272
16Selenocompound metabolism_Homo sapiens_hsa004502.17310185
17Linoleic acid metabolism_Homo sapiens_hsa005912.11028266
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.04051585
19Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.00402461
20Ether lipid metabolism_Homo sapiens_hsa005651.99474849
21Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.95249055
22Oxidative phosphorylation_Homo sapiens_hsa001901.91556480
23Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.90656232
24Pyruvate metabolism_Homo sapiens_hsa006201.87968257
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.84845747
26Parkinsons disease_Homo sapiens_hsa050121.80685679
27Carbon metabolism_Homo sapiens_hsa012001.77884093
28Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.73928420
29Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.73659402
30DNA replication_Homo sapiens_hsa030301.70118539
31Arginine and proline metabolism_Homo sapiens_hsa003301.68221207
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.62644370
33Butanoate metabolism_Homo sapiens_hsa006501.61118014
34Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.60704966
35Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.57917528
36ECM-receptor interaction_Homo sapiens_hsa045121.57389878
37Steroid biosynthesis_Homo sapiens_hsa001001.51947076
38Ovarian steroidogenesis_Homo sapiens_hsa049131.51841933
39Huntingtons disease_Homo sapiens_hsa050161.51753812
40Ribosome_Homo sapiens_hsa030101.51282830
41Phototransduction_Homo sapiens_hsa047441.49761200
42Base excision repair_Homo sapiens_hsa034101.47362307
43Fatty acid degradation_Homo sapiens_hsa000711.46955046
44Fatty acid metabolism_Homo sapiens_hsa012121.46398193
45Alzheimers disease_Homo sapiens_hsa050101.35811000
46Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.35304534
47beta-Alanine metabolism_Homo sapiens_hsa004101.34133093
48Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.33555410
49Cysteine and methionine metabolism_Homo sapiens_hsa002701.31185303
50Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.27233984
51Nucleotide excision repair_Homo sapiens_hsa034201.23482815
52Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.22747465
53Histidine metabolism_Homo sapiens_hsa003401.22213996
54Spliceosome_Homo sapiens_hsa030401.20799261
55Nitrogen metabolism_Homo sapiens_hsa009101.19115496
56Basal transcription factors_Homo sapiens_hsa030221.18606142
57Biosynthesis of amino acids_Homo sapiens_hsa012301.16058533
58Sulfur metabolism_Homo sapiens_hsa009201.14809284
59Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.10353921
60Renal cell carcinoma_Homo sapiens_hsa052111.09962838
61Purine metabolism_Homo sapiens_hsa002301.09461359
62Pyrimidine metabolism_Homo sapiens_hsa002401.06665681
63Caffeine metabolism_Homo sapiens_hsa002321.06378223
64Protein digestion and absorption_Homo sapiens_hsa049741.03972638
65Tryptophan metabolism_Homo sapiens_hsa003801.02224975
66Folate biosynthesis_Homo sapiens_hsa007901.01650092
67Basal cell carcinoma_Homo sapiens_hsa052170.96686633
68Retinol metabolism_Homo sapiens_hsa008300.90668721
69Dorso-ventral axis formation_Homo sapiens_hsa043200.89568665
70Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.88532143
71cGMP-PKG signaling pathway_Homo sapiens_hsa040220.86030785
72Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85629517
73Tight junction_Homo sapiens_hsa045300.82962142
74Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.82953656
75Glucagon signaling pathway_Homo sapiens_hsa049220.81937065
76Sulfur relay system_Homo sapiens_hsa041220.81578972
77Vitamin digestion and absorption_Homo sapiens_hsa049770.80320035
78PPAR signaling pathway_Homo sapiens_hsa033200.80013254
79Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79293120
80Hedgehog signaling pathway_Homo sapiens_hsa043400.78113831
81Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.77374402
82p53 signaling pathway_Homo sapiens_hsa041150.76325422
83AMPK signaling pathway_Homo sapiens_hsa041520.75896761
84Oocyte meiosis_Homo sapiens_hsa041140.73731766
85Vascular smooth muscle contraction_Homo sapiens_hsa042700.72780088
86Primary bile acid biosynthesis_Homo sapiens_hsa001200.72726805
87Chemical carcinogenesis_Homo sapiens_hsa052040.70885616
88Oxytocin signaling pathway_Homo sapiens_hsa049210.69384030
89Olfactory transduction_Homo sapiens_hsa047400.68977686
90Nicotine addiction_Homo sapiens_hsa050330.66881888
91mRNA surveillance pathway_Homo sapiens_hsa030150.66172840
92Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.64394973
93Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.63905542
94Focal adhesion_Homo sapiens_hsa045100.63705189
95Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.63380833
96Arachidonic acid metabolism_Homo sapiens_hsa005900.63080217
97Glutathione metabolism_Homo sapiens_hsa004800.59433387
98Glycerophospholipid metabolism_Homo sapiens_hsa005640.58961029
99Metabolic pathways_Homo sapiens_hsa011000.58747608
100Pentose and glucuronate interconversions_Homo sapiens_hsa000400.58022731
101Maturity onset diabetes of the young_Homo sapiens_hsa049500.56864118
102Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.55476542
103Starch and sucrose metabolism_Homo sapiens_hsa005000.54166589
104RNA transport_Homo sapiens_hsa030130.52940648
105Wnt signaling pathway_Homo sapiens_hsa043100.52472000
106Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.47159072
107Long-term depression_Homo sapiens_hsa047300.44658329
108Cell cycle_Homo sapiens_hsa041100.43668969
109Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.43502735
110Calcium signaling pathway_Homo sapiens_hsa040200.43020464
111RNA degradation_Homo sapiens_hsa030180.42988203
112Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.42663227
113HIF-1 signaling pathway_Homo sapiens_hsa040660.42524100
114Circadian rhythm_Homo sapiens_hsa047100.41853735
115Peroxisome_Homo sapiens_hsa041460.41758272
116Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.40915043
117Arginine biosynthesis_Homo sapiens_hsa002200.39450679
118PI3K-Akt signaling pathway_Homo sapiens_hsa041510.38300200
119Non-homologous end-joining_Homo sapiens_hsa034500.38024751
120Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37989523
121Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37824837
122Fat digestion and absorption_Homo sapiens_hsa049750.36508171
123Fatty acid biosynthesis_Homo sapiens_hsa000610.35833735
124Sphingolipid metabolism_Homo sapiens_hsa006000.35551962
125Renin secretion_Homo sapiens_hsa049240.35388018
126Mineral absorption_Homo sapiens_hsa049780.34795124
127Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.34717978
128Ras signaling pathway_Homo sapiens_hsa040140.34520911
129Gastric acid secretion_Homo sapiens_hsa049710.33789715
130TGF-beta signaling pathway_Homo sapiens_hsa043500.33453121
131Collecting duct acid secretion_Homo sapiens_hsa049660.32781861
132Longevity regulating pathway - mammal_Homo sapiens_hsa042110.31136640
133Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31012058
134Glutamatergic synapse_Homo sapiens_hsa047240.30473616
135Hippo signaling pathway_Homo sapiens_hsa043900.29864586
136Tyrosine metabolism_Homo sapiens_hsa003500.29508459
137Serotonergic synapse_Homo sapiens_hsa047260.27670397
138GnRH signaling pathway_Homo sapiens_hsa049120.25174203
139Taste transduction_Homo sapiens_hsa047420.24520811
140cAMP signaling pathway_Homo sapiens_hsa040240.24249632
141* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.24148504
142Circadian entrainment_Homo sapiens_hsa047130.24108321
143Fructose and mannose metabolism_Homo sapiens_hsa000510.24023080
144Bile secretion_Homo sapiens_hsa049760.22624600
145Protein export_Homo sapiens_hsa030600.22459991

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