MPI

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: Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)7.16974761
2maintenance of protein location in nucleus (GO:0051457)6.67628745
3regulation of cilium movement (GO:0003352)6.26656074
4negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)6.25791786
5regulation of response to osmotic stress (GO:0047484)5.96041844
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.95330798
7somite rostral/caudal axis specification (GO:0032525)5.85794484
8ribosomal small subunit biogenesis (GO:0042274)5.82726798
9viral transcription (GO:0019083)5.78075052
10cytidine deamination (GO:0009972)5.71735597
11cytidine metabolic process (GO:0046087)5.71735597
12cytidine catabolic process (GO:0006216)5.71735597
13negative regulation of epidermis development (GO:0045683)5.67820063
14translational termination (GO:0006415)5.58355099
15regulation of mammary gland epithelial cell proliferation (GO:0033599)5.57935067
16negative regulation of cell cycle G2/M phase transition (GO:1902750)5.53566911
17protein localization to kinetochore (GO:0034501)5.50599595
18ribosomal small subunit assembly (GO:0000028)5.41088954
19negative regulation of telomerase activity (GO:0051974)5.30754903
20negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)5.30296302
21histone H4-K8 acetylation (GO:0043982)5.21568806
22histone H4-K5 acetylation (GO:0043981)5.21568806
23regulation of telomere maintenance via telomerase (GO:0032210)5.17202901
24rRNA transcription (GO:0009303)4.97900624
25translational elongation (GO:0006414)4.92536854
26negative regulation of potassium ion transmembrane transport (GO:1901380)4.91835723
27regulation of nuclear cell cycle DNA replication (GO:0033262)4.85115285
28ATP synthesis coupled proton transport (GO:0015986)4.77166059
29energy coupled proton transport, down electrochemical gradient (GO:0015985)4.77166059
30histone H4-K12 acetylation (GO:0043983)4.75526757
31mitotic sister chromatid segregation (GO:0000070)4.74116123
32muscle organ morphogenesis (GO:0048644)4.73838280
33mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.68080049
34regulation of MHC class I biosynthetic process (GO:0045343)4.66273964
35pyrimidine ribonucleoside catabolic process (GO:0046133)4.60851808
36quinone metabolic process (GO:1901661)4.58931579
37SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.55071721
38cotranslational protein targeting to membrane (GO:0006613)4.47341873
39cullin deneddylation (GO:0010388)4.44417223
40microtubule severing (GO:0051013)4.42816008
41protein targeting to ER (GO:0045047)4.41733852
42negative regulation of epidermal cell differentiation (GO:0045605)4.41571643
43nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.37504387
44viral life cycle (GO:0019058)4.36323092
45phenol-containing compound catabolic process (GO:0019336)4.34151257
46cellular protein complex disassembly (GO:0043624)4.31795731
47notochord development (GO:0030903)4.31467040
48protein localization to chromosome, centromeric region (GO:0071459)4.29327753
49coenzyme catabolic process (GO:0009109)4.26745134
50ribosomal large subunit biogenesis (GO:0042273)4.25712072
51heterochromatin organization (GO:0070828)4.23615912
52behavioral response to nicotine (GO:0035095)4.22348658
53rRNA methylation (GO:0031167)4.20895100
54establishment of protein localization to endoplasmic reticulum (GO:0072599)4.20722894
55hormone catabolic process (GO:0042447)4.19475566
56protein localization to endoplasmic reticulum (GO:0070972)4.16390127
57mitochondrion distribution (GO:0048311)4.13613377
58DNA replication-dependent nucleosome organization (GO:0034723)4.05127803
59DNA replication-dependent nucleosome assembly (GO:0006335)4.05127803
60DNA strand renaturation (GO:0000733)4.04834543
61maturation of SSU-rRNA (GO:0030490)4.02799008
62cardiovascular system development (GO:0072358)4.02190830
63positive regulation of DNA-dependent DNA replication (GO:2000105)3.99880292
64proline transport (GO:0015824)3.98702838
65protein complex biogenesis (GO:0070271)3.98125807
66response to dietary excess (GO:0002021)3.97696411
67primitive streak formation (GO:0090009)3.95315820
68regulation of microtubule-based movement (GO:0060632)3.93016540
69translational initiation (GO:0006413)3.92284985
70protein polyglutamylation (GO:0018095)3.92127271
71protein complex disassembly (GO:0043241)3.89295274
72regulation of mitochondrial translation (GO:0070129)3.88395248
73mitochondrial respiratory chain complex assembly (GO:0033108)3.86320852
74protein deneddylation (GO:0000338)3.85367226
75nucleoside transmembrane transport (GO:1901642)3.85254390
76negative regulation of telomere maintenance (GO:0032205)3.82328524
77rRNA modification (GO:0000154)3.81570438
78mitochondrial respiratory chain complex I assembly (GO:0032981)3.80540458
79NADH dehydrogenase complex assembly (GO:0010257)3.80540458
80mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.80540458
81histone H4-K16 acetylation (GO:0043984)3.78437737
82sister chromatid segregation (GO:0000819)3.77146767
83cellular response to ATP (GO:0071318)3.75408452
84regulation of apoptotic process involved in morphogenesis (GO:1902337)3.74741466
85regulation of translation in response to stress (GO:0043555)3.68431902
86macromolecular complex disassembly (GO:0032984)3.68305236
87mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.67462605
88ventricular system development (GO:0021591)3.67082958
89vitamin A metabolic process (GO:0006776)3.63978704
90pseudouridine synthesis (GO:0001522)3.63763313
91establishment of protein localization to mitochondrial membrane (GO:0090151)3.61409592
92maintenance of protein localization in organelle (GO:0072595)3.60514596
93respiratory electron transport chain (GO:0022904)3.60067745
94fusion of sperm to egg plasma membrane (GO:0007342)3.58431025
95cellular modified amino acid catabolic process (GO:0042219)3.57802658
96electron transport chain (GO:0022900)3.56119066
97nuclear pore complex assembly (GO:0051292)3.52788636
98glycolytic process (GO:0006096)3.50450204
99chromatin assembly (GO:0031497)3.49715224
100respiratory chain complex IV assembly (GO:0008535)3.49118143
101regulation of skeletal muscle contraction (GO:0014819)3.48027449
102branching involved in mammary gland duct morphogenesis (GO:0060444)3.46402290
103cytochrome complex assembly (GO:0017004)3.44298331
104regulation of telomerase activity (GO:0051972)3.43566446
105calcium-mediated signaling using intracellular calcium source (GO:0035584)3.40761422
106chaperone-mediated protein transport (GO:0072321)3.40299784
107meiotic chromosome segregation (GO:0045132)3.39021780
108cellular component biogenesis (GO:0044085)3.37887567
109transcription from mitochondrial promoter (GO:0006390)3.36822004
110pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.35984397
111interferon-gamma production (GO:0032609)3.35092811
112ribonucleoprotein complex biogenesis (GO:0022613)3.34590426
113cell fate commitment involved in formation of primary germ layer (GO:0060795)3.32217688
114intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.30422086
115termination of RNA polymerase III transcription (GO:0006386)3.29212159
116transcription elongation from RNA polymerase III promoter (GO:0006385)3.29212159
117translation (GO:0006412)3.25054171
118nuclear-transcribed mRNA catabolic process (GO:0000956)3.24932527
119DNA replication checkpoint (GO:0000076)3.21866887
120oxidative phosphorylation (GO:0006119)3.20062548
121ubiquinone biosynthetic process (GO:0006744)3.19910641
122tRNA modification (GO:0006400)3.17051727
123intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)3.16175745
124negative regulation of cell aging (GO:0090344)3.15609644
125iron-sulfur cluster assembly (GO:0016226)3.15316322
126metallo-sulfur cluster assembly (GO:0031163)3.15316322
127folic acid metabolic process (GO:0046655)3.15134286
128regulation of intracellular estrogen receptor signaling pathway (GO:0033146)3.14116393
129apoptotic DNA fragmentation (GO:0006309)3.11994868
130positive regulation of protein deacetylation (GO:0090312)3.11176657
131retinoic acid receptor signaling pathway (GO:0048384)3.10876253
132regulation of translational fidelity (GO:0006450)3.10677520
133mRNA catabolic process (GO:0006402)3.10574883
134base-excision repair, AP site formation (GO:0006285)3.10066529
135transepithelial transport (GO:0070633)3.08646070
136arachidonic acid secretion (GO:0050482)3.06857416
137icosanoid secretion (GO:0032309)3.06857416
138regulation of odontogenesis of dentin-containing tooth (GO:0042487)3.06344185
139peptidyl-histidine modification (GO:0018202)3.04245055
140nuclear pore organization (GO:0006999)3.02717036
141protein targeting to membrane (GO:0006612)3.01996020
142nucleobase biosynthetic process (GO:0046112)3.00840180
143GTP biosynthetic process (GO:0006183)2.99337402
144UTP biosynthetic process (GO:0006228)2.96804947
145bone trabecula formation (GO:0060346)2.96316272
146regulation of telomere maintenance (GO:0032204)2.94955963
147detection of temperature stimulus (GO:0016048)2.92479025
148branched-chain amino acid catabolic process (GO:0009083)2.91469249
149receptor recycling (GO:0001881)2.90307067
150mRNA stabilization (GO:0048255)2.89578141
151RNA stabilization (GO:0043489)2.89578141
152ubiquinone metabolic process (GO:0006743)2.88451001
153plasma membrane fusion (GO:0045026)2.88169480
154water-soluble vitamin biosynthetic process (GO:0042364)2.87946325
155nucleoside transport (GO:0015858)2.87351255
156pre-miRNA processing (GO:0031054)2.87164582
157epoxygenase P450 pathway (GO:0019373)2.86496099
158tricarboxylic acid cycle (GO:0006099)2.85436853
159purine nucleoside triphosphate biosynthetic process (GO:0009145)2.85140606
160purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.85129621
161protein localization to cilium (GO:0061512)2.85107038
162intestinal epithelial cell development (GO:0060576)2.82617010
163rRNA processing (GO:0006364)2.81568480
164ATP biosynthetic process (GO:0006754)2.80642953
165RNA catabolic process (GO:0006401)2.80638145
166L-serine metabolic process (GO:0006563)2.80505532
167tachykinin receptor signaling pathway (GO:0007217)2.80447547
168ribonucleoside triphosphate biosynthetic process (GO:0009201)2.80277098
169CTP metabolic process (GO:0046036)2.80274691
170CTP biosynthetic process (GO:0006241)2.80274691
171pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209)2.79504735
172DNA damage response, detection of DNA damage (GO:0042769)2.79438899
173pyrimidine nucleotide catabolic process (GO:0006244)2.78865245
174purine nucleobase biosynthetic process (GO:0009113)2.77726564
175* GDP-mannose metabolic process (GO:0019673)2.77298720
176UTP metabolic process (GO:0046051)2.75326038
177pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.74009687
178quinone biosynthetic process (GO:1901663)2.73525547
179guanosine-containing compound biosynthetic process (GO:1901070)2.73221133
180rRNA metabolic process (GO:0016072)2.71191885
181preassembly of GPI anchor in ER membrane (GO:0016254)2.71148841
182tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.70816688
183RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.70816688
184pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.70416290
185intracellular protein transmembrane import (GO:0044743)2.69923254
186tRNA processing (GO:0008033)2.69733689
187adenine nucleotide transport (GO:0051503)2.69443420
188aerobic respiration (GO:0009060)2.66776314
189establishment of protein localization to mitochondrion (GO:0072655)2.66191326
190pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208)2.64588708
191peptidyl-arginine omega-N-methylation (GO:0035247)2.63795618
192grooming behavior (GO:0007625)2.62933542
193protein targeting to mitochondrion (GO:0006626)2.59866884
194daunorubicin metabolic process (GO:0044597)10.8572031
195polyketide metabolic process (GO:0030638)10.8572031
196doxorubicin metabolic process (GO:0044598)10.8572031

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.77535557
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse6.27264472
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse6.27264472
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse6.27264472
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.74665309
6NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.52889387
7JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.44260677
8XRN2_22483619_ChIP-Seq_HELA_Human3.37398839
9HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.33794904
10MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.21803157
11* ETS1_20019798_ChIP-Seq_JURKAT_Human2.93966497
12POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.89913388
13SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.84459586
14SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.82561746
15SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.77509391
16THAP11_20581084_ChIP-Seq_MESCs_Mouse2.70171694
17EST1_17652178_ChIP-ChIP_JURKAT_Human2.64430569
18GABP_17652178_ChIP-ChIP_JURKAT_Human2.62513553
19E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.55531915
20NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.52726055
21TP63_19390658_ChIP-ChIP_HaCaT_Human2.52263810
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.46032966
23TCF3_18692474_ChIP-Seq_MESCs_Mouse2.35214418
24RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.31237090
25HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.27256227
26TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.27039410
27ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.16795250
28* TTF2_22483619_ChIP-Seq_HELA_Human2.14206259
29NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.13818081
30TCF3_18692474_ChIP-Seq_MEFs_Mouse2.10572233
31NANOG_18358816_ChIP-ChIP_MESCs_Mouse2.06269679
32GABP_19822575_ChIP-Seq_HepG2_Human2.04687616
33PDX1_19855005_ChIP-ChIP_MIN6_Mouse2.04159543
34NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.97273255
35VDR_21846776_ChIP-Seq_THP-1_Human1.93504523
36STAT3_1855785_ChIP-Seq_MESCs_Mouse1.92572259
37CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.91467373
38E2F7_22180533_ChIP-Seq_HELA_Human1.91348305
39SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.88870139
40VDR_23849224_ChIP-Seq_CD4+_Human1.88360181
41DCP1A_22483619_ChIP-Seq_HELA_Human1.87253734
42CIITA_25753668_ChIP-Seq_RAJI_Human1.86869809
43* SRF_21415370_ChIP-Seq_HL-1_Mouse1.85142408
44POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.78766867
45CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.78379159
46E2F4_17652178_ChIP-ChIP_JURKAT_Human1.76131777
47ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.74669682
48POU5F1_16518401_ChIP-PET_MESCs_Mouse1.73829045
49E2F1_17053090_ChIP-ChIP_MCF-7_Human1.73512482
50KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.70868612
51TET1_21451524_ChIP-Seq_MESCs_Mouse1.70016551
52FOXP3_21729870_ChIP-Seq_TREG_Human1.69837741
53IRF1_19129219_ChIP-ChIP_H3396_Human1.67712001
54FOXP1_21924763_ChIP-Seq_HESCs_Human1.64946064
55DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.64873161
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.63202936
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.62315645
58E2F1_18555785_ChIP-Seq_MESCs_Mouse1.57594209
59ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.57573542
60MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.55936317
61TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.54107288
62CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.54078053
63ZFP281_18757296_ChIP-ChIP_E14_Mouse1.53256774
64KDM5A_27292631_Chip-Seq_BREAST_Human1.50795293
65POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.48703454
66FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.47926001
67NANOG_18692474_ChIP-Seq_MESCs_Mouse1.46373451
68NANOG_18555785_ChIP-Seq_MESCs_Mouse1.46342987
69PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.45541345
70E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.45401541
71BCL6_27268052_Chip-Seq_Bcells_Human1.43958405
72NELFA_20434984_ChIP-Seq_ESCs_Mouse1.43562159
73NANOG_18692474_ChIP-Seq_MEFs_Mouse1.43390588
74SOX2_18555785_ChIP-Seq_MESCs_Mouse1.41101654
75E2F1_20622854_ChIP-Seq_HELA_Human1.39670210
76MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.36980431
77DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.36428834
78LXR_22292898_ChIP-Seq_THP-1_Human1.36054027
79CTCF_27219007_Chip-Seq_Bcells_Human1.35693296
80CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.32316110
81KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.31006906
82MYC_18940864_ChIP-ChIP_HL60_Human1.30291354
83POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.29731703
84* HIF1A_21447827_ChIP-Seq_MCF-7_Human1.29422981
85MAF_26560356_Chip-Seq_TH2_Human1.28728870
86SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.28553866
87YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26905757
88CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.26431911
89SOX2_18692474_ChIP-Seq_MESCs_Mouse1.24389183
90CTCF_18555785_ChIP-Seq_MESCs_Mouse1.22086356
91OCT4_18692474_ChIP-Seq_MEFs_Mouse1.21600605
92TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.21198672
93RARA_24833708_ChIP-Seq_LIVER_Mouse1.19821141
94SA1_27219007_Chip-Seq_ERYTHROID_Human1.17232279
95NANOG_16518401_ChIP-PET_MESCs_Mouse1.16805049
96FOXM1_23109430_ChIP-Seq_U2OS_Human1.16368553
97PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.15810156
98RARB_24833708_ChIP-Seq_LIVER_Mouse1.15389128
99TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.15284969
100ZFP281_27345836_Chip-Seq_ESCs_Mouse1.14778203
101ERG_21242973_ChIP-ChIP_JURKAT_Human1.14529536
102SIN3B_21632747_ChIP-Seq_MESCs_Mouse1.14317249
103CTCF_20526341_ChIP-Seq_ESCs_Human1.14133377
104ERA_21632823_ChIP-Seq_H3396_Human1.13449055
105FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.12446573
106EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.11983483
107MYC_19079543_ChIP-ChIP_MESCs_Mouse1.11074694
108ZFX_18555785_ChIP-Seq_MESCs_Mouse1.10877656
109CREB1_15753290_ChIP-ChIP_HEK293T_Human1.10618238
110MYC_19030024_ChIP-ChIP_MESCs_Mouse1.10582306
111SOX2_18692474_ChIP-Seq_MEFs_Mouse1.10514435
112RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.09589918
113TP53_22127205_ChIP-Seq_IMR90_Human1.09472414
114YY1_22570637_ChIP-Seq_MALME-3M_Human1.09139964
115RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.09077244
116NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.08003184
117CTCF_26484167_Chip-Seq_Bcells_Mouse1.07707838
118SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.07372368
119NANOG_21062744_ChIP-ChIP_HESCs_Human1.06725405
120SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.06506324
121MYC_18555785_ChIP-Seq_MESCs_Mouse1.06504623
122MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.06086359
123CDX2_20551321_ChIP-Seq_CACO-2_Human1.03933394
124SMC4_20622854_ChIP-Seq_HELA_Human1.02984826
125MYC_22102868_ChIP-Seq_BL_Human1.02953507
126EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.02857267
127RXRA_24833708_ChIP-Seq_LIVER_Mouse1.01944303
128MYC_18358816_ChIP-ChIP_MESCs_Mouse1.01382473
129NANOG_16153702_ChIP-ChIP_HESCs_Human1.00249374
130SA1_27219007_Chip-Seq_Bcells_Human1.00066714
131CTCF_27219007_Chip-Seq_ERYTHROID_Human0.99966663
132EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.99139494
133SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98831113
134HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.98634124
135ERG_20887958_ChIP-Seq_HPC-7_Mouse0.98363665
136ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.98234326
137ETS1_21867929_ChIP-Seq_TH2_Mouse0.97488740
138STAT3_18555785_ChIP-Seq_MESCs_Mouse0.94286862
139ELF1_20517297_ChIP-Seq_JURKAT_Human0.93565862
140TBX3_20139965_ChIP-Seq_ESCs_Mouse0.92819759
141POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.92103627
142ELK4_26923725_Chip-Seq_MESODERM_Mouse0.92041915
143TBX3_20139965_ChIP-Seq_MESCs_Mouse0.90823138
144KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.90648519
145SETDB1_19884255_ChIP-Seq_MESCs_Mouse0.90145116
146SRY_22984422_ChIP-ChIP_TESTIS_Rat0.87661433
147RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.86819884
148CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.86605267
149RNF2_27304074_Chip-Seq_NSC_Mouse0.81467222
150PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.79391332
151IKZF1_21737484_ChIP-ChIP_HCT116_Human0.78144653
152SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.76995300
153NCOR1_26117541_ChIP-Seq_K562_Human0.75651487
154ESET_19884257_ChIP-Seq_ESCs_Mouse0.75634913
155PHF8_20622854_ChIP-Seq_HELA_Human0.73717642
156CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.73504024
157SOX3_22085726_ChIP-Seq_NPCs_Mouse0.72825054
158SPI1_26923725_Chip-Seq_HPCs_Mouse0.72675519
159STAT6_21828071_ChIP-Seq_BEAS2B_Human0.72588337
160KAP1_27257070_Chip-Seq_ESCs_Mouse0.72065210
161CTCF_21964334_Chip-Seq_Bcells_Human0.71440539
162BCOR_27268052_Chip-Seq_Bcells_Human0.70413233
163MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.70321770
164* P68_20966046_ChIP-Seq_HELA_Human0.69499592
165HOXB7_26014856_ChIP-Seq_BT474_Human0.69317898
166KDM2B_26808549_Chip-Seq_SUP-B15_Human0.67543851
167GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.67389970
168KLF4_18555785_ChIP-Seq_MESCs_Mouse0.66674715

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003011_delayed_dark_adaptation4.45297583
2MP0003136_yellow_coat_color3.93578817
3MP0005423_abnormal_somatic_nervous3.86928110
4MP0002254_reproductive_system_inflammat3.81446724
5MP0004264_abnormal_extraembryonic_tissu3.79954650
6MP0006292_abnormal_olfactory_placode3.52845204
7MP0004858_abnormal_nervous_system3.33717438
8MP0005171_absent_coat_pigmentation3.28180762
9MP0002332_abnormal_exercise_endurance3.19743732
10MP0001986_abnormal_taste_sensitivity3.17989840
11MP0003122_maternal_imprinting3.13754796
12MP0002638_abnormal_pupillary_reflex3.08025161
13MP0006035_abnormal_mitochondrial_morpho2.95603481
14MP0005499_abnormal_olfactory_system2.95446478
15MP0005394_taste/olfaction_phenotype2.95446478
16MP0003890_abnormal_embryonic-extraembry2.92065126
17MP0000749_muscle_degeneration2.61729507
18MP0005174_abnormal_tail_pigmentation2.59531850
19MP0002653_abnormal_ependyma_morphology2.57748129
20MP0005075_abnormal_melanosome_morpholog2.57480020
21MP0005410_abnormal_fertilization2.55452961
22MP0001968_abnormal_touch/_nociception2.55020284
23MP0001188_hyperpigmentation2.51709362
24MP0009379_abnormal_foot_pigmentation2.45648924
25MP0003111_abnormal_nucleus_morphology2.28999273
26MP0004084_abnormal_cardiac_muscle2.22588495
27MP0008057_abnormal_DNA_replication2.20513341
28MP0003693_abnormal_embryo_hatching2.16983264
29MP0003183_abnormal_peptide_metabolism2.13214357
30MP0002127_abnormal_cardiovascular_syste2.12878458
31MP0003137_abnormal_impulse_conducting2.08028043
32MP0003121_genomic_imprinting2.07728826
33MP0004957_abnormal_blastocyst_morpholog2.07654828
34MP0008058_abnormal_DNA_repair2.06596494
35MP0003705_abnormal_hypodermis_morpholog1.86132352
36MP0002160_abnormal_reproductive_system1.85564964
37MP0004215_abnormal_myocardial_fiber1.85153502
38MP0001346_abnormal_lacrimal_gland1.85056653
39MP0005257_abnormal_intraocular_pressure1.84801387
40MP0010094_abnormal_chromosome_stability1.83045376
41MP0002736_abnormal_nociception_after1.80528138
42MP0008961_abnormal_basal_metabolism1.79667881
43MP0003646_muscle_fatigue1.79317720
44MP0002269_muscular_atrophy1.76484840
45MP0000750_abnormal_muscle_regeneration1.72710686
46MP0000678_abnormal_parathyroid_gland1.69911674
47MP0002837_dystrophic_cardiac_calcinosis1.68876790
48MP0005266_abnormal_metabolism1.68760147
49MP0005330_cardiomyopathy1.56423835
50MP0004043_abnormal_pH_regulation1.54445229
51* MP0001672_abnormal_embryogenesis/_devel1.52573226
52* MP0005380_embryogenesis_phenotype1.52573226
53* MP0002088_abnormal_embryonic_growth/wei1.47729324
54MP0002938_white_spotting1.46623964
55* MP0003984_embryonic_growth_retardation1.46503076
56MP0006036_abnormal_mitochondrial_physio1.45125763
57MP0003938_abnormal_ear_development1.44689627
58MP0000538_abnormal_urinary_bladder1.39409424
59MP0003123_paternal_imprinting1.35970703
60MP0003880_abnormal_central_pattern1.33943028
61MP0005551_abnormal_eye_electrophysiolog1.33908602
62MP0002735_abnormal_chemical_nociception1.32674990
63MP0008995_early_reproductive_senescence1.32526418
64MP0004087_abnormal_muscle_fiber1.28173973
65MP0010352_gastrointestinal_tract_polyps1.28076663
66MP0004036_abnormal_muscle_relaxation1.27375746
67MP0001919_abnormal_reproductive_system1.27169935
68MP0005332_abnormal_amino_acid1.25795834
69MP0003786_premature_aging1.24674318
70MP0000751_myopathy1.24199711
71MP0001905_abnormal_dopamine_level1.23965836
72MP0004085_abnormal_heartbeat1.23883357
73MP0004147_increased_porphyrin_level1.19462763
74MP0005083_abnormal_biliary_tract1.19240026
75MP0002822_catalepsy1.18138094
76MP0003806_abnormal_nucleotide_metabolis1.17117655
77MP0000759_abnormal_skeletal_muscle1.16251001
78MP0004133_heterotaxia1.15719393
79MP0010030_abnormal_orbit_morphology1.13373960
80MP0001849_ear_inflammation1.12734470
81MP0001502_abnormal_circadian_rhythm1.12441266
82MP0001293_anophthalmia1.10158172
83MP0002972_abnormal_cardiac_muscle1.08534024
84MP0005646_abnormal_pituitary_gland1.07078187
85MP0008932_abnormal_embryonic_tissue1.07039941
86MP0005389_reproductive_system_phenotype1.06891027
87MP0003787_abnormal_imprinting1.06464053
88MP0000049_abnormal_middle_ear1.05048004
89MP0005645_abnormal_hypothalamus_physiol1.04136302
90MP0002277_abnormal_respiratory_mucosa1.03845791
91MP0002932_abnormal_joint_morphology1.03485715
92MP0005620_abnormal_muscle_contractility1.03324943
93MP0005623_abnormal_meninges_morphology1.03171961
94MP0003283_abnormal_digestive_organ1.03119284
95MP0000013_abnormal_adipose_tissue1.02988502
96MP0010630_abnormal_cardiac_muscle1.02212811
97MP0008007_abnormal_cellular_replicative1.01773421
98MP0001529_abnormal_vocalization1.01770827
99MP0001661_extended_life_span1.01626740
100MP0008775_abnormal_heart_ventricle1.00336689
101MP0003718_maternal_effect1.00198748
102MP0002106_abnormal_muscle_physiology0.99471261
103MP0008789_abnormal_olfactory_epithelium0.98617372
104MP0000762_abnormal_tongue_morphology0.98064723
105MP0002210_abnormal_sex_determination0.97168557
106MP0003698_abnormal_male_reproductive0.96978524
107MP0002085_abnormal_embryonic_tissue0.96964724
108MP0006072_abnormal_retinal_apoptosis0.96118966
109MP0002114_abnormal_axial_skeleton0.94733932
110MP0001764_abnormal_homeostasis0.94362804
111MP0001756_abnormal_urination0.93436684
112MP0005187_abnormal_penis_morphology0.93201874
113MP0009046_muscle_twitch0.92662035
114MP0000003_abnormal_adipose_tissue0.92257477
115MP0008875_abnormal_xenobiotic_pharmacok0.91300588
116MP0001348_abnormal_lacrimal_gland0.91179723
117MP0002970_abnormal_white_adipose0.91071102
118MP0002249_abnormal_larynx_morphology0.90546579
119MP0000358_abnormal_cell_content/0.88767016
120MP0006276_abnormal_autonomic_nervous0.87988538
121MP0004145_abnormal_muscle_electrophysio0.87588546
122MP0002233_abnormal_nose_morphology0.86764546
123* MP0000350_abnormal_cell_proliferation0.86242592
124MP0008770_decreased_survivor_rate0.85911930
125MP0005369_muscle_phenotype0.85750045
126MP0002557_abnormal_social/conspecific_i0.84970956
127MP0003119_abnormal_digestive_system0.84845309
128MP0002064_seizures0.83743312
129MP0002092_abnormal_eye_morphology0.83537510
130MP0005220_abnormal_exocrine_pancreas0.82842706
131MP0003077_abnormal_cell_cycle0.82607470
132* MP0002086_abnormal_extraembryonic_tissu0.82140836
133MP0003221_abnormal_cardiomyocyte_apopto0.80413395
134MP0002272_abnormal_nervous_system0.80375401
135MP0000631_abnormal_neuroendocrine_gland0.79967320
136MP0000778_abnormal_nervous_system0.79485670
137MP0006138_congestive_heart_failure0.78760388
138MP0001145_abnormal_male_reproductive0.78376353
139MP0003635_abnormal_synaptic_transmissio0.76984404
140MP0000428_abnormal_craniofacial_morphol0.76822422
141MP0002909_abnormal_adrenal_gland0.76405715
142MP0003828_pulmonary_edema0.76031989
143MP0001970_abnormal_pain_threshold0.75264604
144MP0005365_abnormal_bile_salt0.74919281
145MP0002752_abnormal_somatic_nervous0.73627222
146* MP0002084_abnormal_developmental_patter0.72170610
147MP0001486_abnormal_startle_reflex0.71959696
148MP0001324_abnormal_eye_pigmentation0.71781511
149MP0005084_abnormal_gallbladder_morpholo0.71331091
150MP0006082_CNS_inflammation0.71201660
151MP0002063_abnormal_learning/memory/cond0.70631188
152MP0009745_abnormal_behavioral_response0.70380491
153MP0001929_abnormal_gametogenesis0.69732576
154MP0000026_abnormal_inner_ear0.69522649
155MP0005409_darkened_coat_color0.69193048
156MP0005253_abnormal_eye_physiology0.68890516
157MP0002572_abnormal_emotion/affect_behav0.68570462
158MP0001697_abnormal_embryo_size0.68505604
159MP0001485_abnormal_pinna_reflex0.68297269
160MP0000432_abnormal_head_morphology0.67800969
161MP0000266_abnormal_heart_morphology0.67496565
162MP0003935_abnormal_craniofacial_develop0.66420504
163MP0004142_abnormal_muscle_tone0.66350557
164MP0001730_embryonic_growth_arrest0.65581156
165MP0004484_altered_response_of0.65200974
166MP0003315_abnormal_perineum_morphology0.64862747
167* MP0000313_abnormal_cell_death0.63665690
168MP0004197_abnormal_fetal_growth/weight/0.63259740
169MP0002751_abnormal_autonomic_nervous0.63124616
170MP0000343_altered_response_to0.61590238

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)7.17570884
2Abnormality of the lower motor neuron (HP:0002366)5.84394665
3Hepatoblastoma (HP:0002884)5.18614730
4Hypochromic microcytic anemia (HP:0004840)5.09667595
5Multiple enchondromatosis (HP:0005701)4.96852701
6Ragged-red muscle fibers (HP:0003200)4.27442779
7Abnormal number of erythroid precursors (HP:0012131)4.26779359
8Abnormality of cells of the erythroid lineage (HP:0012130)4.22438224
9Ependymoma (HP:0002888)4.21243841
10Rib fusion (HP:0000902)4.07728830
11Testicular atrophy (HP:0000029)3.97676663
12Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.82790784
13Lipid accumulation in hepatocytes (HP:0006561)3.82393185
14Reticulocytopenia (HP:0001896)3.78114124
15Increased hepatocellular lipid droplets (HP:0006565)3.76123460
16Renal Fanconi syndrome (HP:0001994)3.71181122
17Mitochondrial inheritance (HP:0001427)3.61499771
18Nephroblastoma (Wilms tumor) (HP:0002667)3.45786054
19Neoplasm of striated muscle (HP:0009728)3.44389687
20Amyotrophic lateral sclerosis (HP:0007354)3.42587814
21Exercise-induced muscle cramps (HP:0003710)3.42418873
22Difficulty running (HP:0009046)3.40096293
23Increased intramyocellular lipid droplets (HP:0012240)3.36970205
24Hepatocellular necrosis (HP:0001404)3.31439905
25Increased muscle lipid content (HP:0009058)3.22891478
26Embryonal renal neoplasm (HP:0011794)3.20142069
27Hyperventilation (HP:0002883)3.19583590
28Horizontal nystagmus (HP:0000666)3.19376096
29Hypoplasia of the fovea (HP:0007750)3.18815031
30Aplasia/Hypoplasia of the fovea (HP:0008060)3.18815031
31Increased connective tissue (HP:0009025)3.16604740
32Increased CSF lactate (HP:0002490)3.14407853
33Birth length less than 3rd percentile (HP:0003561)3.14320603
34Hepatic necrosis (HP:0002605)3.13773594
35Abnormal mitochondria in muscle tissue (HP:0008316)3.11802244
36Rhabdomyosarcoma (HP:0002859)3.10397327
37Macrocytic anemia (HP:0001972)3.07907281
38Abnormality of the salivary glands (HP:0010286)3.07146914
39Acute necrotizing encephalopathy (HP:0006965)3.06586873
40Ventricular tachycardia (HP:0004756)3.06218438
41Abnormality of the astrocytes (HP:0100707)3.05093162
42Astrocytoma (HP:0009592)3.05093162
43Congenital stationary night blindness (HP:0007642)3.03618846
44Abnormality of glycolysis (HP:0004366)2.98110962
45Increased serum pyruvate (HP:0003542)2.98110962
46Acute encephalopathy (HP:0006846)2.97133609
47Rectal fistula (HP:0100590)2.94323676
48Rectovaginal fistula (HP:0000143)2.94323676
49Absent thumb (HP:0009777)2.86816804
50Bifid tongue (HP:0010297)2.86702211
51Progressive muscle weakness (HP:0003323)2.85091496
52Patellar aplasia (HP:0006443)2.83645248
53Partial duplication of thumb phalanx (HP:0009944)2.70958343
54Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.70738026
55Chromosomal breakage induced by crosslinking agents (HP:0003221)2.67222752
56Aplasia/Hypoplasia of the patella (HP:0006498)2.64489524
57Aplasia/hypoplasia of the humerus (HP:0006507)2.63937054
58Fused cervical vertebrae (HP:0002949)2.63440763
59Short humerus (HP:0005792)2.63106349
60Neoplasm of the heart (HP:0100544)2.62778502
61Generalized hypotonia (HP:0001290)2.62447443
62Type 2 muscle fiber atrophy (HP:0003554)2.62166912
63Intestinal fistula (HP:0100819)2.60834275
64Periauricular skin pits (HP:0100277)2.59384898
65Preauricular pit (HP:0004467)2.59384898
66Muscle fibrillation (HP:0010546)2.57415218
67Muscle fiber atrophy (HP:0100295)2.56480575
68Tongue fasciculations (HP:0001308)2.56260947
69Exercise intolerance (HP:0003546)2.55787100
70Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.53555594
71Attenuation of retinal blood vessels (HP:0007843)2.51418928
72Resting tremor (HP:0002322)2.49995304
73Trismus (HP:0000211)2.49055026
74Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.48845592
75Abnormality of the fovea (HP:0000493)2.47461757
76Abnormal lung lobation (HP:0002101)2.46754046
77Hyperglycinuria (HP:0003108)2.46255758
78Increased serum lactate (HP:0002151)2.45925402
79Anomalous pulmonary venous return (HP:0010772)2.43896477
80Lactic acidosis (HP:0003128)2.43888178
81Vaginal fistula (HP:0004320)2.43872412
82Sensory axonal neuropathy (HP:0003390)2.42691808
83Impulsivity (HP:0100710)2.41037845
84Progressive external ophthalmoplegia (HP:0000590)2.40859874
85Akinesia (HP:0002304)2.38098842
86EMG: neuropathic changes (HP:0003445)2.38069456
87Pallor (HP:0000980)2.38026749
88Cerebral edema (HP:0002181)2.35925482
89Abnormal cartilage morphology (HP:0002763)2.35664912
90Pendular nystagmus (HP:0012043)2.35060971
91Progressive macrocephaly (HP:0004481)2.34561181
92Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.33118112
93Partial duplication of the phalanx of hand (HP:0009999)2.31612441
94Methylmalonic aciduria (HP:0012120)2.30824572
95Poikiloderma (HP:0001029)2.30459071
96Ketosis (HP:0001946)2.28156233
97Mildly elevated creatine phosphokinase (HP:0008180)2.28114388
98Dicarboxylic aciduria (HP:0003215)2.26927755
99Abnormality of dicarboxylic acid metabolism (HP:0010995)2.26927755
100Squamous cell carcinoma (HP:0002860)2.26603047
101Hypoplasia of the pons (HP:0012110)2.25142137
102Upper motor neuron abnormality (HP:0002127)2.23397352
103Supernumerary spleens (HP:0009799)2.22519267
104Glycosuria (HP:0003076)2.21694908
105Abnormality of urine glucose concentration (HP:0011016)2.21694908
1063-Methylglutaconic aciduria (HP:0003535)2.21426655
107Optic nerve coloboma (HP:0000588)2.20027414
108Abnormality of chromosome segregation (HP:0002916)2.19170687
109Respiratory difficulties (HP:0002880)2.18924889
110Preauricular skin tag (HP:0000384)2.17567728
111Adenoma sebaceum (HP:0009720)2.16948884
112Angiofibromas (HP:0010615)2.16948884
113Abnormality of the pubic bones (HP:0003172)2.16781513
114Nasal polyposis (HP:0100582)2.14636276
115Abnormality of renal resorption (HP:0011038)2.13163963
116Chromsome breakage (HP:0040012)2.12542927
117Aplasia/Hypoplasia of the macula (HP:0008059)2.12529776
118Microvesicular hepatic steatosis (HP:0001414)2.11758273
119Malignant neoplasm of the central nervous system (HP:0100836)2.11573762
120Optic disc pallor (HP:0000543)2.10108762
121Glioma (HP:0009733)2.10047139
122Aplasia of the musculature (HP:0100854)2.09608899
123Tetraplegia (HP:0002445)2.09595492
124Amblyopia (HP:0000646)2.09250084
125Atrial fibrillation (HP:0005110)2.07065294
126Atrophy/Degeneration involving motor neurons (HP:0007373)2.06728056
127Hand muscle atrophy (HP:0009130)2.05454546
128Shawl scrotum (HP:0000049)2.05312481
129Abnormality of the phalanges of the hallux (HP:0010057)2.05264454
130Myopathic facies (HP:0002058)2.03747820
131Opisthotonus (HP:0002179)2.03165775
132Skin pits (HP:0100276)2.01396559
133Abnormality of the musculature of the hand (HP:0001421)2.01025110
134Abnormality of glycine metabolism (HP:0010895)2.00886102
135Abnormality of serine family amino acid metabolism (HP:0010894)2.00886102
136Primary atrial arrhythmia (HP:0001692)2.00829655
137Supraventricular tachycardia (HP:0004755)2.00706727
138Aplasia/Hypoplasia affecting the retina (HP:0008061)2.00368547
139Sudden death (HP:0001699)2.00220655
140Ketoacidosis (HP:0001993)1.99320372
141Myoglobinuria (HP:0002913)1.98552954
142Myotonia (HP:0002486)1.98526361
143Abnormality of homocysteine metabolism (HP:0010919)1.98076619
144Homocystinuria (HP:0002156)1.98076619
145Decreased activity of mitochondrial respiratory chain (HP:0008972)1.97835968
146Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.97835968
147Hypopigmentation of the fundus (HP:0007894)1.97193238
148Fasciculations (HP:0002380)1.96791609
149Malnutrition (HP:0004395)1.96040703
150Abnormality of the pulmonary veins (HP:0011718)1.95891785
151Exertional dyspnea (HP:0002875)1.95024171
152Aplasia/Hypoplasia of the sacrum (HP:0008517)1.94967988
153Skin nodule (HP:0200036)1.94425638
154EMG: myopathic abnormalities (HP:0003458)1.94360408
155Generalized aminoaciduria (HP:0002909)1.94006118
156Supraventricular arrhythmia (HP:0005115)1.92660377
157Short thumb (HP:0009778)1.92235866
158Impaired proprioception (HP:0010831)1.92222801
159Dyschromatopsia (HP:0007641)1.92109818
160Nasolacrimal duct obstruction (HP:0000579)1.92025925
161Abnormality of the pons (HP:0007361)1.90618760
162Facial cleft (HP:0002006)1.90366279
163Fetal akinesia sequence (HP:0001989)1.89727292
164Large earlobe (HP:0009748)1.89442117
165Anteriorly placed anus (HP:0001545)1.89346966
166Microretrognathia (HP:0000308)1.88334035
167Bile duct proliferation (HP:0001408)1.88138149
168Abnormal biliary tract physiology (HP:0012439)1.88138149
169Absent radius (HP:0003974)1.87943734
170Renal duplication (HP:0000075)1.87914297
171Aplasia/Hypoplasia involving the musculature (HP:0001460)1.87036700
172Facial hemangioma (HP:0000329)1.86914182
173Abnormality of midbrain morphology (HP:0002418)1.86209298
174Molar tooth sign on MRI (HP:0002419)1.86209298
175Megaloblastic anemia (HP:0001889)1.84458107
176Popliteal pterygium (HP:0009756)1.84444235
177Myokymia (HP:0002411)1.84382231
178Abnormality of placental membranes (HP:0011409)1.84253246
179Amniotic constriction ring (HP:0009775)1.84253246
180Annular pancreas (HP:0001734)1.83443128
181Hyperglycinemia (HP:0002154)1.82252404
182Lethargy (HP:0001254)1.81296855
183Retinal dysplasia (HP:0007973)1.81107439
184Abnormal urine phosphate concentration (HP:0012599)1.79021551
185Methylmalonic acidemia (HP:0002912)1.78299517
186Hypoplasia of the radius (HP:0002984)1.77777571
187Abnormality of sulfur amino acid metabolism (HP:0004339)1.77483439
188Aplasia involving forearm bones (HP:0009822)1.77032688
189Absent forearm bone (HP:0003953)1.77032688

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK127.27051093
2GRK55.28065296
3TLK14.98753310
4ERN14.20916526
5ZAK4.19865917
6STK164.13579528
7GRK63.70724585
8VRK23.48765514
9MAPK152.99829002
10ADRBK22.90789370
11PDK42.88282040
12PDK32.88282040
13GRK72.84249993
14GRK12.79387453
15WNK42.62430309
16TYRO32.57391873
17CSF1R2.53255002
18TESK22.49801595
19TTK2.46056540
20MAPK72.37938015
21TGFBR22.37443220
22VRK12.29574673
23WNK12.12288467
24MATK2.04177521
25PDK22.02848381
26MOS1.83736663
27MAP2K41.67725764
28SRPK11.61481344
29AKT31.58431239
30BMPR1B1.57184505
31STK101.55980583
32MUSK1.53777686
33CAMK41.51677577
34PRKG21.45793970
35NTRK11.41555581
36NME21.40229260
37SIK21.38962393
38EEF2K1.36746598
39DYRK21.34855811
40PAK41.31729588
41MAPK131.30241836
42NEK11.25103185
43CSNK1G31.22107983
44RPS6KA51.15317858
45LMTK21.14623654
46MAP2K71.13296744
47ADRBK11.12528317
48MARK21.12178045
49CDK71.11371230
50ATR1.10740985
51CDK81.08522282
52CCNB11.05180816
53CSNK1G21.04013329
54OBSCN0.97510979
55NUAK10.97044708
56CHEK20.95881848
57MAPK120.94053622
58CSNK1A1L0.93517249
59MAP2K60.92893712
60IRAK20.90211701
61PHKG20.87461774
62PHKG10.87461774
63PLK10.86827532
64TRIB30.85935292
65TAF10.84902503
66KDR0.84445463
67TTN0.83203993
68MAP3K90.80607098
69PRKD30.80028159
70MARK10.79403611
71MAP3K70.78714746
72BRSK10.77315280
73STK380.76412537
74EPHA20.76263047
75CSNK1G10.75775128
76MAPKAPK50.75413971
77AKT20.73774649
78ICK0.72788921
79INSRR0.72552108
80MAP3K110.71618219
81NTRK30.70589962
82CAMKK20.70032497
83LATS20.68249394
84HIPK20.67932874
85AURKB0.67145056
86WEE10.66822352
87ACVR1B0.66685650
88CDK40.65425510
89TNIK0.64526363
90FLT30.62901232
91CHEK10.62304468
92DAPK20.60803018
93MYLK0.60508232
94MAPK110.58034126
95PLK40.57608896
96DAPK30.56897008
97PBK0.54523065
98MAP3K100.52498642
99CAMKK10.52144721
100FGFR30.51780318
101ARAF0.51336097
102MAPKAPK30.50868256
103CSNK2A20.49176115
104CASK0.48560247
105ALK0.48313255
106DYRK1B0.46264705
107CDK30.45950603
108RPS6KB20.44670584
109RIPK10.44480504
110TESK10.43689568
111PAK30.40961832
112WNK30.40233512
113PIM20.40039412
114PRKAA10.39727416
115BRAF0.39231161
116CSNK2A10.38664645
117STK390.38360617
118MTOR0.38023294
119MAP3K40.37229771
120NME10.36850658
121PRPF4B0.36691184
122CSNK1A10.35887274
123PTK2B0.35525740
124PRKCI0.35380849
125PKN10.34374775
126PRKCG0.33325636
127CDK150.32097982
128CDC70.31231170
129EIF2AK20.31079575
130CDK180.30141766
131PRKACB0.30094139
132AURKA0.29926387
133PDK10.29901430
134CDK20.28304421
135EPHA40.27828218
136CDK11A0.27657690
137PAK10.27625966
138PRKACG0.26180659
139IGF1R0.26099449
140BCKDK0.25211524
141CDK190.24882084
142PTK20.24314475
143PRKCD0.23722941
144CSNK1E0.23642836
145PRKACA0.23211568
146CSK0.22949629
147PAK60.21475275
148NEK20.20450534
149CAMK10.20240523
150MAPK100.20193750
151CDK140.18571817
152PDGFRA0.18189587
153ERBB20.17877969
154RPS6KA30.16460024
155ATM0.16115202
156BUB10.15657981
157GSK3B0.15525125
158DAPK10.14661015
159PINK10.14509374
160NTRK20.14240039
161CDK10.12874589

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007505.67076369
2Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006035.50306752
3Sulfur relay system_Homo sapiens_hsa041224.41553163
4Ribosome_Homo sapiens_hsa030104.40310812
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.53806519
6Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.03768807
7Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001303.01166943
8RNA polymerase_Homo sapiens_hsa030202.96072475
9Galactose metabolism_Homo sapiens_hsa000522.87539623
10* Fructose and mannose metabolism_Homo sapiens_hsa000512.84123547
11Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.56556409
122-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.52682066
13Cardiac muscle contraction_Homo sapiens_hsa042602.40041219
14Base excision repair_Homo sapiens_hsa034102.27075501
15Arachidonic acid metabolism_Homo sapiens_hsa005902.20647359
16DNA replication_Homo sapiens_hsa030302.18662718
17Homologous recombination_Homo sapiens_hsa034402.17139140
18Carbon metabolism_Homo sapiens_hsa012002.11821111
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.89667220
20alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.85018091
21Pyrimidine metabolism_Homo sapiens_hsa002401.84902911
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.83959430
23Linoleic acid metabolism_Homo sapiens_hsa005911.82572232
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.57198691
25Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.51934781
26Dilated cardiomyopathy_Homo sapiens_hsa054141.48925096
27Pyruvate metabolism_Homo sapiens_hsa006201.48301154
28Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.47172041
29Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.46112988
30Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.45302117
31Biosynthesis of amino acids_Homo sapiens_hsa012301.44530393
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.30770863
33Proteasome_Homo sapiens_hsa030501.29232207
34Purine metabolism_Homo sapiens_hsa002301.28974380
35Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.28848934
36Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.27746911
37Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.26884679
38Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.26750066
39mTOR signaling pathway_Homo sapiens_hsa041501.26495130
40Vitamin digestion and absorption_Homo sapiens_hsa049771.24934278
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.24914128
42Oxidative phosphorylation_Homo sapiens_hsa001901.24502109
43RNA transport_Homo sapiens_hsa030131.23686929
44Nucleotide excision repair_Homo sapiens_hsa034201.21404847
45Folate biosynthesis_Homo sapiens_hsa007901.21105858
46Parkinsons disease_Homo sapiens_hsa050121.20033390
47Pentose phosphate pathway_Homo sapiens_hsa000301.12636441
48Huntingtons disease_Homo sapiens_hsa050161.12061619
49Central carbon metabolism in cancer_Homo sapiens_hsa052301.10674352
50Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.08461305
51Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.07991381
52Alcoholism_Homo sapiens_hsa050341.06930758
53Thyroid cancer_Homo sapiens_hsa052161.06496517
54Systemic lupus erythematosus_Homo sapiens_hsa053221.05131357
55Maturity onset diabetes of the young_Homo sapiens_hsa049501.00696857
56mRNA surveillance pathway_Homo sapiens_hsa030150.99406307
57Spliceosome_Homo sapiens_hsa030400.99325764
58Pentose and glucuronate interconversions_Homo sapiens_hsa000400.98410657
59Propanoate metabolism_Homo sapiens_hsa006400.93446383
60Arginine and proline metabolism_Homo sapiens_hsa003300.92548768
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91970278
62Nicotine addiction_Homo sapiens_hsa050330.91865313
63Peroxisome_Homo sapiens_hsa041460.91014790
64Arginine biosynthesis_Homo sapiens_hsa002200.89020487
65Butanoate metabolism_Homo sapiens_hsa006500.88846160
66Inositol phosphate metabolism_Homo sapiens_hsa005620.87690600
67Calcium signaling pathway_Homo sapiens_hsa040200.87310171
68Taste transduction_Homo sapiens_hsa047420.86506289
69Cysteine and methionine metabolism_Homo sapiens_hsa002700.83754047
70Fanconi anemia pathway_Homo sapiens_hsa034600.80011248
71Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.79855762
72Alzheimers disease_Homo sapiens_hsa050100.77701047
73Thyroid hormone signaling pathway_Homo sapiens_hsa049190.75972038
74Phospholipase D signaling pathway_Homo sapiens_hsa040720.75371690
75Non-homologous end-joining_Homo sapiens_hsa034500.73305187
76Glycosaminoglycan degradation_Homo sapiens_hsa005310.73107460
77GABAergic synapse_Homo sapiens_hsa047270.71624797
78Fat digestion and absorption_Homo sapiens_hsa049750.70912741
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69931845
80Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.67577156
81Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.67519365
82Basal transcription factors_Homo sapiens_hsa030220.65904450
83Glutamatergic synapse_Homo sapiens_hsa047240.65640938
84Ovarian steroidogenesis_Homo sapiens_hsa049130.65041683
85Long-term potentiation_Homo sapiens_hsa047200.64516947
86Other glycan degradation_Homo sapiens_hsa005110.63516155
87Synaptic vesicle cycle_Homo sapiens_hsa047210.63510541
88Ether lipid metabolism_Homo sapiens_hsa005650.62079773
89Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62062981
90Glycerophospholipid metabolism_Homo sapiens_hsa005640.62012608
91RNA degradation_Homo sapiens_hsa030180.61696504
92Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.58460899
93Lysine degradation_Homo sapiens_hsa003100.58287363
94Regulation of actin cytoskeleton_Homo sapiens_hsa048100.57213380
95Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.57047417
96Vascular smooth muscle contraction_Homo sapiens_hsa042700.56758231
97Phosphatidylinositol signaling system_Homo sapiens_hsa040700.56317142
98Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.56159976
99Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.55751179
100Phototransduction_Homo sapiens_hsa047440.55466679
101Serotonergic synapse_Homo sapiens_hsa047260.55159042
102Renin-angiotensin system_Homo sapiens_hsa046140.54747938
103Nitrogen metabolism_Homo sapiens_hsa009100.54336442
104Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53386998
105AMPK signaling pathway_Homo sapiens_hsa041520.53085339
106Phenylalanine metabolism_Homo sapiens_hsa003600.51610562
107Oxytocin signaling pathway_Homo sapiens_hsa049210.50458508
108N-Glycan biosynthesis_Homo sapiens_hsa005100.50263878
109Glucagon signaling pathway_Homo sapiens_hsa049220.49874520
110Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.49407778
111Hedgehog signaling pathway_Homo sapiens_hsa043400.47317602
112Tight junction_Homo sapiens_hsa045300.46717153
113Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.46374877
114Oocyte meiosis_Homo sapiens_hsa041140.45111837
115Tryptophan metabolism_Homo sapiens_hsa003800.44833252
116Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44399277
117cAMP signaling pathway_Homo sapiens_hsa040240.44052975
118Fatty acid degradation_Homo sapiens_hsa000710.43609714
119Fatty acid metabolism_Homo sapiens_hsa012120.43254139
120Collecting duct acid secretion_Homo sapiens_hsa049660.43080628
121Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.43077086
122GnRH signaling pathway_Homo sapiens_hsa049120.40993092
123Glutathione metabolism_Homo sapiens_hsa004800.40614450
124Cell cycle_Homo sapiens_hsa041100.40227601
125Rap1 signaling pathway_Homo sapiens_hsa040150.39758854
126Basal cell carcinoma_Homo sapiens_hsa052170.38793888
127Drug metabolism - other enzymes_Homo sapiens_hsa009830.38667292
128Fatty acid elongation_Homo sapiens_hsa000620.38332024
129Choline metabolism in cancer_Homo sapiens_hsa052310.38283149
130Cocaine addiction_Homo sapiens_hsa050300.37932028
131* Metabolic pathways_Homo sapiens_hsa011000.37263342
132Steroid biosynthesis_Homo sapiens_hsa001000.35882022
133Renin secretion_Homo sapiens_hsa049240.35638436
134cGMP-PKG signaling pathway_Homo sapiens_hsa040220.35378935
135Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.34705739
136Tyrosine metabolism_Homo sapiens_hsa003500.34127639
137Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.33506451
138Glycerolipid metabolism_Homo sapiens_hsa005610.33452513
139VEGF signaling pathway_Homo sapiens_hsa043700.33412404
140Protein export_Homo sapiens_hsa030600.32707453
141* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.31589769
142HIF-1 signaling pathway_Homo sapiens_hsa040660.31316526
143Pathways in cancer_Homo sapiens_hsa052000.31225478
144One carbon pool by folate_Homo sapiens_hsa006700.30791774
145Sulfur metabolism_Homo sapiens_hsa009200.29261512
146Steroid hormone biosynthesis_Homo sapiens_hsa001400.28877821
147Chemical carcinogenesis_Homo sapiens_hsa052040.28504101
148Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.27376868
149Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26519483
150Starch and sucrose metabolism_Homo sapiens_hsa005000.25488989
151Long-term depression_Homo sapiens_hsa047300.25300689
152Wnt signaling pathway_Homo sapiens_hsa043100.21431813
153Protein digestion and absorption_Homo sapiens_hsa049740.21175438
154Mismatch repair_Homo sapiens_hsa034300.20916223
155Selenocompound metabolism_Homo sapiens_hsa004500.20675690
156Dorso-ventral axis formation_Homo sapiens_hsa043200.19941897

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