NSDHL

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





Description: The protein encoded by this gene is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis. Mutations in this gene are associated with CHILD syndrome, which is a X-linked dominant disorder of lipid metabolism with disturbed cholesterol biosynthesis, and typically lethal in males. Alternatively spliced transcript variants with differing 5' UTR have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* cholesterol biosynthetic process (GO:0006695)7.21712925
2fatty acid elongation (GO:0030497)6.78895887
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.67584984
4L-phenylalanine catabolic process (GO:0006559)6.67584984
5* sterol biosynthetic process (GO:0016126)6.31698318
6erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.20419851
7L-phenylalanine metabolic process (GO:0006558)6.20419851
8alpha-linolenic acid metabolic process (GO:0036109)5.68618975
9aromatic amino acid family catabolic process (GO:0009074)5.54184750
10glyoxylate metabolic process (GO:0046487)5.44034489
11long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.99059017
12bile acid biosynthetic process (GO:0006699)4.88736171
13fatty-acyl-CoA biosynthetic process (GO:0046949)4.87439741
14triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.86385141
15isoprenoid biosynthetic process (GO:0008299)4.71805224
16cysteine metabolic process (GO:0006534)4.66514732
17acetyl-CoA metabolic process (GO:0006084)4.65872846
18very long-chain fatty acid metabolic process (GO:0000038)4.56733173
19tryptophan catabolic process (GO:0006569)4.54919075
20indole-containing compound catabolic process (GO:0042436)4.54919075
21indolalkylamine catabolic process (GO:0046218)4.54919075
22sulfur amino acid catabolic process (GO:0000098)4.48450013
23coenzyme catabolic process (GO:0009109)4.47058149
24acyl-CoA biosynthetic process (GO:0071616)4.41086900
25thioester biosynthetic process (GO:0035384)4.41086900
26regulation of cholesterol esterification (GO:0010872)4.41046946
27establishment of protein localization to mitochondrial membrane (GO:0090151)4.38990879
28kynurenine metabolic process (GO:0070189)4.32103919
29tryptophan metabolic process (GO:0006568)4.30707768
30mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.30639456
31fatty-acyl-CoA metabolic process (GO:0035337)4.30379169
32proteasome assembly (GO:0043248)4.28767870
33aldehyde catabolic process (GO:0046185)4.28461775
34tyrosine metabolic process (GO:0006570)4.26095383
35long-chain fatty-acyl-CoA metabolic process (GO:0035336)4.25385221
36axon ensheathment in central nervous system (GO:0032291)4.19619664
37central nervous system myelination (GO:0022010)4.19619664
38high-density lipoprotein particle remodeling (GO:0034375)4.19503297
39chaperone-mediated protein transport (GO:0072321)4.18753771
40cellular ketone body metabolic process (GO:0046950)4.08416264
41serine family amino acid biosynthetic process (GO:0009070)4.07265358
42ethanol oxidation (GO:0006069)4.05814790
43aromatic amino acid family metabolic process (GO:0009072)4.05118030
44negative regulation of fibrinolysis (GO:0051918)4.05091264
45L-serine metabolic process (GO:0006563)4.04840340
46acyl-CoA metabolic process (GO:0006637)4.04758815
47thioester metabolic process (GO:0035383)4.04758815
48pyrimidine nucleobase catabolic process (GO:0006208)4.02759362
49bile acid metabolic process (GO:0008206)3.99487188
50low-density lipoprotein particle remodeling (GO:0034374)3.88279770
51regulation of fibrinolysis (GO:0051917)3.87368962
52protein carboxylation (GO:0018214)3.85903113
53peptidyl-glutamic acid carboxylation (GO:0017187)3.85903113
54* cholesterol metabolic process (GO:0008203)3.85642915
55* steroid biosynthetic process (GO:0006694)3.85547399
56short-chain fatty acid metabolic process (GO:0046459)3.85087172
57cofactor catabolic process (GO:0051187)3.82357947
58plasma lipoprotein particle remodeling (GO:0034369)3.80152663
59protein-lipid complex remodeling (GO:0034368)3.80152663
60macromolecular complex remodeling (GO:0034367)3.80152663
61negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.78169148
62ATP synthesis coupled proton transport (GO:0015986)3.76795430
63energy coupled proton transport, down electrochemical gradient (GO:0015985)3.76795430
64plasma lipoprotein particle clearance (GO:0034381)3.75824618
65fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.75227928
66cellular glucuronidation (GO:0052695)3.73095420
67very-low-density lipoprotein particle assembly (GO:0034379)3.70039757
68heme transport (GO:0015886)3.68762323
69cellular biogenic amine catabolic process (GO:0042402)3.68374039
70amine catabolic process (GO:0009310)3.68374039
71reverse cholesterol transport (GO:0043691)3.65221064
72establishment of integrated proviral latency (GO:0075713)3.65043563
73complement activation, alternative pathway (GO:0006957)3.62794319
74ketone body metabolic process (GO:1902224)3.61488072
75serine family amino acid catabolic process (GO:0009071)3.60914960
76* sterol metabolic process (GO:0016125)3.59965508
77regulation of protein activation cascade (GO:2000257)3.59404322
78serine family amino acid metabolic process (GO:0009069)3.58788943
79regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.57572349
80positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.57356867
81alpha-amino acid catabolic process (GO:1901606)3.57122815
82urea cycle (GO:0000050)3.55858580
83urea metabolic process (GO:0019627)3.55858580
84mitotic metaphase plate congression (GO:0007080)3.53742162
85glucuronate metabolic process (GO:0019585)3.53621597
86uronic acid metabolic process (GO:0006063)3.53621597
87regulation of cholesterol biosynthetic process (GO:0045540)3.52727561
88glutamate metabolic process (GO:0006536)3.51425164
89anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.50658450
90negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.48831157
91negative regulation of ligase activity (GO:0051352)3.48831157
92regulation of cholesterol metabolic process (GO:0090181)3.46544125
93homocysteine metabolic process (GO:0050667)3.44130362
94cellular modified amino acid catabolic process (GO:0042219)3.43802051
95regulation of cellular amino acid metabolic process (GO:0006521)3.40165664
96cellular amino acid catabolic process (GO:0009063)3.40102890
97ethanol metabolic process (GO:0006067)3.39326002
98indolalkylamine metabolic process (GO:0006586)3.35752283
99cholesterol efflux (GO:0033344)3.35217608
100negative regulation of cholesterol transport (GO:0032375)3.35079166
101negative regulation of sterol transport (GO:0032372)3.35079166
102regulation of triglyceride catabolic process (GO:0010896)3.33484429
103regulation of complement activation (GO:0030449)3.32799383
104nitrogen cycle metabolic process (GO:0071941)3.31866530
105linoleic acid metabolic process (GO:0043651)3.27316685
106amino-acid betaine metabolic process (GO:0006577)3.27123935
107benzene-containing compound metabolic process (GO:0042537)3.25017081
108nucleobase catabolic process (GO:0046113)3.24627195
109establishment of viral latency (GO:0019043)3.20343968
110coenzyme A metabolic process (GO:0015936)3.20240849
111mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.19558972
112plasma lipoprotein particle assembly (GO:0034377)3.19491749
113DNA strand elongation involved in DNA replication (GO:0006271)3.19146719
114arginine metabolic process (GO:0006525)3.18784189
115cellular response to cholesterol (GO:0071397)3.18058736
116transcription elongation from RNA polymerase III promoter (GO:0006385)3.16555121
117termination of RNA polymerase III transcription (GO:0006386)3.16555121
118response to nitrosative stress (GO:0051409)3.15917564
119lysine metabolic process (GO:0006553)3.15908688
120lysine catabolic process (GO:0006554)3.15908688
121positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.12969492
122DNA damage response, detection of DNA damage (GO:0042769)3.11210366
123regulation of mitochondrial translation (GO:0070129)3.10880062
124DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.10341393
125DNA strand elongation (GO:0022616)3.09917481
126respiratory electron transport chain (GO:0022904)3.08583128
127protein maturation by protein folding (GO:0022417)3.06146906
128signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.05122084
129intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.05122084
130signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.05056129
131signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.05056129
132signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.05056129
133telomere maintenance via semi-conservative replication (GO:0032201)3.03235370
134metaphase plate congression (GO:0051310)3.02877771
135DNA replication checkpoint (GO:0000076)3.02664252
136electron transport chain (GO:0022900)3.00970316
137chromatin remodeling at centromere (GO:0031055)3.00304290
138CENP-A containing nucleosome assembly (GO:0034080)2.98818764
139positive regulation of ligase activity (GO:0051351)2.98815433
140signal transduction involved in DNA integrity checkpoint (GO:0072401)2.98678802
141signal transduction involved in DNA damage checkpoint (GO:0072422)2.98678802
142signal transduction involved in cell cycle checkpoint (GO:0072395)2.97671383
143protein targeting to mitochondrion (GO:0006626)2.94565967
144spliceosomal snRNP assembly (GO:0000387)2.93479533
145purine nucleobase biosynthetic process (GO:0009113)2.93021603
146cullin deneddylation (GO:0010388)2.87955946
147rRNA modification (GO:0000154)2.87039346
148inner mitochondrial membrane organization (GO:0007007)2.85502775
149formation of translation preinitiation complex (GO:0001731)2.83808247
150regulation of ubiquitin-protein transferase activity (GO:0051438)2.83281246
151protein neddylation (GO:0045116)2.82097510
152protein localization to mitochondrion (GO:0070585)2.79838817
153ribosomal large subunit biogenesis (GO:0042273)2.78095791
154nucleobase biosynthetic process (GO:0046112)2.76244633
155tRNA aminoacylation for protein translation (GO:0006418)2.75511873
156establishment of protein localization to mitochondrion (GO:0072655)2.73392480
157regulation of cellular amine metabolic process (GO:0033238)2.72721069
158regulation of ligase activity (GO:0051340)2.72630984
159protein deneddylation (GO:0000338)2.72006745
160protein complex biogenesis (GO:0070271)2.71831345
161mitochondrial respiratory chain complex I assembly (GO:0032981)2.71575997
162NADH dehydrogenase complex assembly (GO:0010257)2.71575997
163mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.71575997
164maturation of SSU-rRNA (GO:0030490)2.71339543
165mitochondrial respiratory chain complex assembly (GO:0033108)2.70890863
166amino acid activation (GO:0043038)2.68678240
167tRNA aminoacylation (GO:0043039)2.68678240
1687-methylguanosine mRNA capping (GO:0006370)2.61591738
169tricarboxylic acid cycle (GO:0006099)2.57476668
170pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148)2.54636409
171protein localization to kinetochore (GO:0034501)2.53714478
172de novo protein folding (GO:0006458)2.53469085
173pentose metabolic process (GO:0019321)2.53455955
1747-methylguanosine RNA capping (GO:0009452)2.52911757
175RNA capping (GO:0036260)2.52911757
176de novo posttranslational protein folding (GO:0051084)2.51580510
177ribosomal small subunit assembly (GO:0000028)2.49600863
178mitotic sister chromatid segregation (GO:0000070)2.49000378
179translation (GO:0006412)2.48847200
180cellular component biogenesis (GO:0044085)2.47362167
181transcription-coupled nucleotide-excision repair (GO:0006283)2.46363830
182nucleobase-containing small molecule interconversion (GO:0015949)2.45423038
183dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.44586373
184ribonucleoprotein complex biogenesis (GO:0022613)2.44328127
185exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.44196017
186cell cycle G1/S phase transition (GO:0044843)2.44187151
187G1/S transition of mitotic cell cycle (GO:0000082)2.44187151
188histone exchange (GO:0043486)2.43998008
189ribosome assembly (GO:0042255)2.43549040
190ribosomal small subunit biogenesis (GO:0042274)2.42641825
191negative regulation of protein ubiquitination (GO:0031397)2.41543643
192nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.40619301
193IMP biosynthetic process (GO:0006188)2.40016950
194ribosome biogenesis (GO:0042254)2.39532728

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse9.02725434
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.06023572
3EGR1_23403033_ChIP-Seq_LIVER_Mouse5.12708307
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.91796003
5* KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.79001500
6LXR_22158963_ChIP-Seq_LIVER_Mouse4.78200369
7E2F7_22180533_ChIP-Seq_HELA_Human4.67157503
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.54433864
9MYC_18555785_ChIP-Seq_MESCs_Mouse3.96522134
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.95219545
11GABP_17652178_ChIP-ChIP_JURKAT_Human3.84657504
12CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.77819264
13JARID1A_20064375_ChIP-Seq_MESCs_Mouse3.52787465
14HCFC1_20581084_ChIP-Seq_MESCs_Mouse3.39275108
15EST1_17652178_ChIP-ChIP_JURKAT_Human3.37874899
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.23587895
17CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.16218877
18ETS1_20019798_ChIP-Seq_JURKAT_Human3.05805762
19MYC_18358816_ChIP-ChIP_MESCs_Mouse2.92064367
20FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.86541262
21NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.77286077
22PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.73350048
23MYC_19030024_ChIP-ChIP_MESCs_Mouse2.69022220
24E2F4_17652178_ChIP-ChIP_JURKAT_Human2.59447709
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.55219023
26THAP11_20581084_ChIP-Seq_MESCs_Mouse2.51725003
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.50014723
28* E2F1_18555785_ChIP-Seq_MESCs_Mouse2.45707810
29NELFA_20434984_ChIP-Seq_ESCs_Mouse2.44859174
30FOXM1_23109430_ChIP-Seq_U2OS_Human2.37226667
31XRN2_22483619_ChIP-Seq_HELA_Human2.37147669
32HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.36419558
33DCP1A_22483619_ChIP-Seq_HELA_Human2.20193405
34MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.16143174
35ELK1_19687146_ChIP-ChIP_HELA_Human2.15151209
36GABP_19822575_ChIP-Seq_HepG2_Human2.13393817
37AR_21909140_ChIP-Seq_LNCAP_Human2.12824401
38SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.11898440
39TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.00016714
40SRF_21415370_ChIP-Seq_HL-1_Mouse1.93049852
41MYCN_18555785_ChIP-Seq_MESCs_Mouse1.92953477
42TTF2_22483619_ChIP-Seq_HELA_Human1.89652400
43TAF15_26573619_Chip-Seq_HEK293_Human1.88967427
44HTT_18923047_ChIP-ChIP_STHdh_Human1.87451124
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.84758092
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.81613879
47POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.80329030
48CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.80068336
49ELF1_17652178_ChIP-ChIP_JURKAT_Human1.77032909
50PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.74979208
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.73936386
52TRIM28_21343339_ChIP-Seq_HEK293_Human1.71069100
53VDR_23849224_ChIP-Seq_CD4+_Human1.70269117
54* CLOCK_20551151_ChIP-Seq_293T_Human1.66928374
55FOXP3_21729870_ChIP-Seq_TREG_Human1.66319115
56E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.66106104
57TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.64052984
58ZFX_18555785_ChIP-Seq_MESCs_Mouse1.63787505
59NRF2_20460467_ChIP-Seq_MEFs_Mouse1.61048294
60NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.61048294
61ZNF263_19887448_ChIP-Seq_K562_Human1.60180549
62YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.58439044
63YY1_21170310_ChIP-Seq_MESCs_Mouse1.58422381
64FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.57130126
65GBX2_23144817_ChIP-Seq_PC3_Human1.56996095
66HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.53733941
67MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.51751132
68PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.51284693
69MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.48963186
70PADI4_21655091_ChIP-ChIP_MCF-7_Human1.48805447
71E2F1_21310950_ChIP-Seq_MCF-7_Human1.47639270
72POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.43557443
73ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.42634176
74TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.39316650
75POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.35905391
76HOXB4_20404135_ChIP-ChIP_EML_Mouse1.34506844
77AR_21572438_ChIP-Seq_LNCaP_Human1.27802815
78PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.27710584
79OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25902701
80DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.23999031
81NANOG_16153702_ChIP-ChIP_HESCs_Human1.23688174
82TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23422470
83KDM5A_27292631_Chip-Seq_BREAST_Human1.22597449
84SOX2_18555785_ChIP-Seq_MESCs_Mouse1.20544727
85MYC_18940864_ChIP-ChIP_HL60_Human1.20386367
86PIAS1_25552417_ChIP-Seq_VCAP_Human1.19726445
87KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.19330077
88NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.18982104
89TP63_17297297_ChIP-ChIP_HaCaT_Human1.18159569
90WT1_19549856_ChIP-ChIP_CCG9911_Human1.16178904
91GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.15532519
92ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.15445705
93DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.13839350
94* KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.12889192
95FOXA2_19822575_ChIP-Seq_HepG2_Human1.12589392
96ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12159433
97E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.11917323
98HIF1A_21447827_ChIP-Seq_MCF-7_Human1.07238925
99CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07224924
100EOMES_21245162_ChIP-Seq_HESCs_Human1.06748874
101SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.05833218
102ELK1_22589737_ChIP-Seq_MCF10A_Human1.05475268
103NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.03021363
104HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.02517784
105KLF4_18555785_ChIP-Seq_MESCs_Mouse1.01114559
106ESR1_15608294_ChIP-ChIP_MCF-7_Human1.00661102
107ZFP57_27257070_Chip-Seq_ESCs_Mouse1.00439910
108SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.99140133
109CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.98954397
110CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.97977632
111CTBP2_25329375_ChIP-Seq_LNCAP_Human0.97802868
112CTBP1_25329375_ChIP-Seq_LNCAP_Human0.96971075
113SOX2_18692474_ChIP-Seq_MEFs_Mouse0.96701924
114PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.96649892
115ER_23166858_ChIP-Seq_MCF-7_Human0.96001716
116CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.95629503
117AUTS2_25519132_ChIP-Seq_293T-REX_Human0.95117975
118HNF4A_19822575_ChIP-Seq_HepG2_Human0.93569630
119P300_19829295_ChIP-Seq_ESCs_Human0.93055938
120ESR1_20079471_ChIP-ChIP_T-47D_Human0.92981000
121POU3F2_20337985_ChIP-ChIP_501MEL_Human0.92866148
122SOX2_16153702_ChIP-ChIP_HESCs_Human0.92776002
123CREB1_15753290_ChIP-ChIP_HEK293T_Human0.91599237
124RBPJ_22232070_ChIP-Seq_NCS_Mouse0.91328943
125CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.91218819
126ERG_20887958_ChIP-Seq_HPC-7_Mouse0.89499983
127IRF1_19129219_ChIP-ChIP_H3396_Human0.89215922
128CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.88941289
129NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.88204707
130CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88198099
131* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.87695910
132SALL4_18804426_ChIP-ChIP_XEN_Mouse0.87611209
133* SOX2_20726797_ChIP-Seq_SW620_Human0.87520110
134ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.87014482
135AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.86163779
136TRIM28_19339689_ChIP-ChIP_MESCs_Mouse0.84492167
137OCT4_18692474_ChIP-Seq_MEFs_Mouse0.84247715
138STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.82517302
139CBP_21632823_ChIP-Seq_H3396_Human0.82012694
140SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.81604530
141SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.81308821
142SOX17_20123909_ChIP-Seq_XEN_Mouse0.80467744
143FUS_26573619_Chip-Seq_HEK293_Human0.80322074
144EED_16625203_ChIP-ChIP_MESCs_Mouse0.80245118
145AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80157237
146TP53_18474530_ChIP-ChIP_U2OS_Human0.79211707
147UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.79125472
148PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.77068053
149TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.76871621
150TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.75596762
151TOP2B_26459242_ChIP-Seq_MCF-7_Human0.75523147
152SOX2_27498859_Chip-Seq_STOMACH_Mouse0.75350486
153NCOR_22424771_ChIP-Seq_293T_Human0.74210503
154BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.73374220
155TAL1_26923725_Chip-Seq_HPCs_Mouse0.72916394
156PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.71602570
157GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.71465026
158CBX2_27304074_Chip-Seq_ESCs_Mouse0.71214650
159JUN_21703547_ChIP-Seq_K562_Human0.70971594
160SOX2_19829295_ChIP-Seq_ESCs_Human0.70686627
161NANOG_19829295_ChIP-Seq_ESCs_Human0.70686627
162SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.70400153
163SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.69361996
164SMAD3_21741376_ChIP-Seq_EPCs_Human0.68913795
165GATA4_25053715_ChIP-Seq_YYC3_Human0.67958449
166PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.67418547
167CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.67395073
168ESR2_21235772_ChIP-Seq_MCF-7_Human0.66593343
169MTF2_20144788_ChIP-Seq_MESCs_Mouse0.66531892
170EGR1_19032775_ChIP-ChIP_M12_Human0.65304753
171VDR_22108803_ChIP-Seq_LS180_Human0.65012841
172KLF5_20875108_ChIP-Seq_MESCs_Mouse0.64821758
173STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.63865680
174RARG_19884340_ChIP-ChIP_MEFs_Mouse0.63430787
175CHD1_19587682_ChIP-ChIP_MESCs_Mouse0.63179896
176PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.62265101
177NR3C1_21868756_ChIP-Seq_MCF10A_Human0.61870605
178RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.61114293
179EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.60645122
180SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.60420710
181SMAD4_21741376_ChIP-Seq_EPCs_Human0.60220248
182ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.60150383

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.25842115
2MP0005360_urolithiasis6.34298772
3MP0005085_abnormal_gallbladder_physiolo4.98579281
4MP0003806_abnormal_nucleotide_metabolis4.61594866
5MP0005365_abnormal_bile_salt4.54786508
6MP0008875_abnormal_xenobiotic_pharmacok4.24152302
7MP0003693_abnormal_embryo_hatching3.25319503
8MP0005083_abnormal_biliary_tract3.23757535
9MP0009840_abnormal_foam_cell3.18881920
10MP0005332_abnormal_amino_acid2.71071961
11MP0008932_abnormal_embryonic_tissue2.68761570
12MP0010329_abnormal_lipoprotein_level2.68406046
13MP0004957_abnormal_blastocyst_morpholog2.64486353
14MP0006292_abnormal_olfactory_placode2.60033115
15MP0008058_abnormal_DNA_repair2.58473471
16MP0010030_abnormal_orbit_morphology2.57692329
17MP0003941_abnormal_skin_development2.48886410
18MP0003252_abnormal_bile_duct2.46362290
19MP0003195_calcinosis2.41968158
20MP0003329_amyloid_beta_deposits2.41724546
21MP0003111_abnormal_nucleus_morphology2.31904265
22MP0010094_abnormal_chromosome_stability2.28349292
23MP0003011_delayed_dark_adaptation2.27944728
24MP0008789_abnormal_olfactory_epithelium2.06219485
25MP0003077_abnormal_cell_cycle2.01984644
26MP0003690_abnormal_glial_cell1.99281727
27MP0000920_abnormal_myelination1.97861361
28MP0001666_abnormal_nutrient_absorption1.90109247
29MP0009697_abnormal_copulation1.88213065
30MP0002118_abnormal_lipid_homeostasis1.88195297
31MP0000604_amyloidosis1.77343135
32MP0001529_abnormal_vocalization1.77266004
33MP0005451_abnormal_body_composition1.72991782
34MP0005408_hypopigmentation1.71189499
35MP0003136_yellow_coat_color1.69949230
36MP0004019_abnormal_vitamin_homeostasis1.66266839
37MP0005394_taste/olfaction_phenotype1.60840978
38MP0005499_abnormal_olfactory_system1.60840978
39MP0003186_abnormal_redox_activity1.60360480
40MP0005584_abnormal_enzyme/coenzyme_acti1.60055745
41MP0001293_anophthalmia1.59582969
42MP0009384_cardiac_valve_regurgitation1.53723033
43* MP0002938_white_spotting1.52270545
44MP0008007_abnormal_cellular_replicative1.47714187
45MP0003890_abnormal_embryonic-extraembry1.46852788
46MP0000609_abnormal_liver_physiology1.46037719
47MP0002233_abnormal_nose_morphology1.42830333
48MP0003786_premature_aging1.41372887
49MP0003868_abnormal_feces_composition1.40272955
50MP0003122_maternal_imprinting1.39120323
51MP0003315_abnormal_perineum_morphology1.38291454
52MP0003656_abnormal_erythrocyte_physiolo1.37343060
53MP0003937_abnormal_limbs/digits/tail_de1.31053256
54MP0001730_embryonic_growth_arrest1.29747946
55MP0009379_abnormal_foot_pigmentation1.29278601
56MP0004272_abnormal_basement_membrane1.28801587
57MP0002697_abnormal_eye_size1.27471414
58MP0006035_abnormal_mitochondrial_morpho1.25901056
59MP0004133_heterotaxia1.25522242
60MP0001905_abnormal_dopamine_level1.24403316
61MP0004885_abnormal_endolymph1.24168799
62MP0000762_abnormal_tongue_morphology1.22510470
63MP0002234_abnormal_pharynx_morphology1.22493449
64MP0005501_abnormal_skin_physiology1.22112326
65MP0001661_extended_life_span1.20347506
66MP0005171_absent_coat_pigmentation1.17222132
67MP0005319_abnormal_enzyme/_coenzyme1.15090209
68MP0003121_genomic_imprinting1.14195474
69MP0003755_abnormal_palate_morphology1.13584956
70MP0000566_synostosis1.13332447
71MP0005670_abnormal_white_adipose1.12108423
72MP0001764_abnormal_homeostasis1.10747940
73MP0000049_abnormal_middle_ear1.10196882
74MP0003191_abnormal_cellular_cholesterol1.09056390
75MP0003632_abnormal_nervous_system1.08481399
76* MP0002111_abnormal_tail_morphology1.05883684
77MP0002084_abnormal_developmental_patter1.05862359
78MP0002085_abnormal_embryonic_tissue1.05368595
79MP0003942_abnormal_urinary_system1.05258278
80MP0002282_abnormal_trachea_morphology1.04725357
81MP0000358_abnormal_cell_content/1.04563084
82* MP0005380_embryogenesis_phenotype1.03719744
83* MP0001672_abnormal_embryogenesis/_devel1.03719744
84MP0003718_maternal_effect1.03330470
85MP0000537_abnormal_urethra_morphology1.01324958
86MP0002876_abnormal_thyroid_physiology1.01107145
87MP0003634_abnormal_glial_cell1.00592408
88MP0001984_abnormal_olfaction0.98721702
89MP0000778_abnormal_nervous_system0.98715268
90MP0003123_paternal_imprinting0.97903731
91MP0000647_abnormal_sebaceous_gland0.97731167
92MP0000467_abnormal_esophagus_morphology0.96246068
93* MP0001697_abnormal_embryo_size0.95877644
94MP0003950_abnormal_plasma_membrane0.94794669
95MP0005257_abnormal_intraocular_pressure0.94515586
96* MP0002080_prenatal_lethality0.94166319
97MP0000350_abnormal_cell_proliferation0.93561298
98MP0009643_abnormal_urine_homeostasis0.91833957
99MP0001286_abnormal_eye_development0.91822894
100MP0003119_abnormal_digestive_system0.91388975
101MP0003567_abnormal_fetal_cardiomyocyte0.88783350
102MP0006276_abnormal_autonomic_nervous0.88250560
103MP0004142_abnormal_muscle_tone0.87600048
104MP0001299_abnormal_eye_distance/0.84544629
105MP0002210_abnormal_sex_determination0.84278525
106MP0001849_ear_inflammation0.83773661
107MP0001881_abnormal_mammary_gland0.81629039
108* MP0003984_embryonic_growth_retardation0.81459248
109MP0001542_abnormal_bone_strength0.81372805
110MP0002098_abnormal_vibrissa_morphology0.81023645
111MP0002295_abnormal_pulmonary_circulatio0.80853441
112* MP0002088_abnormal_embryonic_growth/wei0.79119804
113MP0001727_abnormal_embryo_implantation0.79026986
114MP0008438_abnormal_cutaneous_collagen0.78701511
115MP0004381_abnormal_hair_follicle0.78168120
116MP0003385_abnormal_body_wall0.78157953
117MP0002796_impaired_skin_barrier0.76238731
118MP0005647_abnormal_sex_gland0.76123466
119MP0004270_analgesia0.75997395
120MP0002092_abnormal_eye_morphology0.75721105
121MP0000639_abnormal_adrenal_gland0.74537521
122MP0002138_abnormal_hepatobiliary_system0.74387044
123MP0005636_abnormal_mineral_homeostasis0.72622299
124MP0005084_abnormal_gallbladder_morpholo0.72616324
125MP0003938_abnormal_ear_development0.69756188
126MP0002160_abnormal_reproductive_system0.69493843
127MP0000598_abnormal_liver_morphology0.69001940
128MP0002751_abnormal_autonomic_nervous0.68286732
129MP0001485_abnormal_pinna_reflex0.67855536
130MP0002736_abnormal_nociception_after0.67366541
131MP0000462_abnormal_digestive_system0.66900438
132MP0003631_nervous_system_phenotype0.66693501
133MP0003861_abnormal_nervous_system0.65940890
134MP0006036_abnormal_mitochondrial_physio0.65756523
135MP0000579_abnormal_nail_morphology0.65597773
136MP0005391_vision/eye_phenotype0.65394213
137MP0005376_homeostasis/metabolism_phenot0.64352637
138MP0001929_abnormal_gametogenesis0.64261638
139MP0001177_atelectasis0.63431450
140MP0001243_abnormal_dermal_layer0.63160869
141MP0005395_other_phenotype0.59134475
142MP0009053_abnormal_anal_canal0.59122368
143MP0009763_increased_sensitivity_to0.57121567
144MP0009765_abnormal_xenobiotic_induced0.56413872
145MP0001486_abnormal_startle_reflex0.55793337
146MP0009764_decreased_sensitivity_to0.53920891
147MP0002090_abnormal_vision0.53728676
148MP0001346_abnormal_lacrimal_gland0.51564769
149MP0002254_reproductive_system_inflammat0.50855778
150MP0009642_abnormal_blood_homeostasis0.50854781
151MP0002229_neurodegeneration0.50725500
152MP0005197_abnormal_uvea_morphology0.50515016
153MP0004134_abnormal_chest_morphology0.50074079
154MP0002971_abnormal_brown_adipose0.49977974
155MP0002733_abnormal_thermal_nociception0.49655958
156MP0004883_abnormal_blood_vessel0.48618615
157MP0001340_abnormal_eyelid_morphology0.48072962
158MP0009672_abnormal_birth_weight0.47710602
159MP0005535_abnormal_body_temperature0.45863632
160MP0005058_abnormal_lysosome_morphology0.43943459
161MP0004924_abnormal_behavior0.43693290
162MP0005386_behavior/neurological_phenoty0.43693290
163MP0005551_abnormal_eye_electrophysiolog0.43559490
164MP0005334_abnormal_fat_pad0.43243946
165MP0005248_abnormal_Harderian_gland0.43179518
166MP0005195_abnormal_posterior_eye0.42858024
167MP0005164_abnormal_response_to0.42192241
168MP0004858_abnormal_nervous_system0.41852002
169MP0004185_abnormal_adipocyte_glucose0.41427983
170MP0005266_abnormal_metabolism0.40898212

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)6.07846058
2Abnormality of aromatic amino acid family metabolism (HP:0004338)5.93246492
3Xanthomatosis (HP:0000991)5.47114682
4Deep venous thrombosis (HP:0002625)5.44700514
5Abnormality of glycolysis (HP:0004366)4.93157887
6Increased serum pyruvate (HP:0003542)4.93157887
7Hypobetalipoproteinemia (HP:0003563)4.89130715
8Prolonged partial thromboplastin time (HP:0003645)4.55017058
9Hyperlipoproteinemia (HP:0010980)4.49827962
10Abnormality of monocarboxylic acid metabolism (HP:0010996)4.42258934
11Neurofibrillary tangles (HP:0002185)4.29465283
12Epidermoid cyst (HP:0200040)3.93565855
13Abnormality of methionine metabolism (HP:0010901)3.87301692
14Abnormality of aspartate family amino acid metabolism (HP:0010899)3.74349113
15Abnormality of serine family amino acid metabolism (HP:0010894)3.64452387
16Abnormality of glycine metabolism (HP:0010895)3.64452387
17Hypolipoproteinemia (HP:0010981)3.51892087
18Hyperglycinemia (HP:0002154)3.50967910
19Abnormality of sulfur amino acid metabolism (HP:0004339)3.47861774
20Cerebral inclusion bodies (HP:0100314)3.36146719
21Fat malabsorption (HP:0002630)3.33330598
22Hyperammonemia (HP:0001987)3.27922267
23Complement deficiency (HP:0004431)3.24865735
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.23099465
25Increased CSF lactate (HP:0002490)3.14892915
26Mitochondrial inheritance (HP:0001427)3.08242553
27Ketosis (HP:0001946)2.97902371
28Hyperglycinuria (HP:0003108)2.92093339
29Hepatocellular necrosis (HP:0001404)2.89815949
30Cerebral edema (HP:0002181)2.88677414
31Abnormality of glutamine family amino acid metabolism (HP:0010902)2.86684226
32Steatorrhea (HP:0002570)2.86076561
33Hypoalphalipoproteinemia (HP:0003233)2.83092501
34Spastic paraparesis (HP:0002313)2.80052020
35Hypophosphatemic rickets (HP:0004912)2.73318962
36Acute encephalopathy (HP:0006846)2.68934930
37Increased hepatocellular lipid droplets (HP:0006565)2.67975770
38Conjugated hyperbilirubinemia (HP:0002908)2.65263133
39Hypercholesterolemia (HP:0003124)2.63481484
40Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.62770816
41Abnormality of fatty-acid metabolism (HP:0004359)2.61659752
42Abnormality of the common coagulation pathway (HP:0010990)2.60260699
43Joint hemorrhage (HP:0005261)2.60236080
44Cortical dysplasia (HP:0002539)2.59578377
45Cholecystitis (HP:0001082)2.56768247
46Abnormal gallbladder physiology (HP:0012438)2.56768247
47Delayed CNS myelination (HP:0002188)2.56249668
48Hyperbilirubinemia (HP:0002904)2.51845510
49Abnormality of serum amino acid levels (HP:0003112)2.48984502
50Lethargy (HP:0001254)2.48640602
51Acanthocytosis (HP:0001927)2.46585622
52Lipid accumulation in hepatocytes (HP:0006561)2.45989679
53Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.45681437
54Degeneration of the lateral corticospinal tracts (HP:0002314)2.45681437
55Increased serum lactate (HP:0002151)2.42859870
56Aplasia/Hypoplasia of the sacrum (HP:0008517)2.41258342
57Degeneration of anterior horn cells (HP:0002398)2.39622369
58Abnormality of the anterior horn cell (HP:0006802)2.39622369
59Methylmalonic acidemia (HP:0002912)2.38008992
60Opisthotonus (HP:0002179)2.37283954
61Sparse eyelashes (HP:0000653)2.35849551
62Skin nodule (HP:0200036)2.33919280
63Multiple enchondromatosis (HP:0005701)2.33112583
64Abnormal gallbladder morphology (HP:0012437)2.31223127
65Abnormality of the corticospinal tract (HP:0002492)2.30248350
66Fragile nails (HP:0001808)2.28985803
67Lactic acidosis (HP:0003128)2.28415042
68Vascular calcification (HP:0004934)2.28117153
69Leukodystrophy (HP:0002415)2.27247644
70Abnormality of pyrimidine metabolism (HP:0004353)2.26169738
71Abnormal lung lobation (HP:0002101)2.23048647
72Decreased activity of mitochondrial respiratory chain (HP:0008972)2.22350879
73Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.22350879
74Abnormality of complement system (HP:0005339)2.20239357
75Microglossia (HP:0000171)2.19922946
76Rickets (HP:0002748)2.19627118
77Renal Fanconi syndrome (HP:0001994)2.19348931
78Horseshoe kidney (HP:0000085)2.18444037
79Acute necrotizing encephalopathy (HP:0006965)2.16932034
80Bifid tongue (HP:0010297)2.15727691
81Abnormality of the labia minora (HP:0012880)2.15711311
82Reticulocytopenia (HP:0001896)2.15419784
83Microvesicular hepatic steatosis (HP:0001414)2.14415323
84Paraparesis (HP:0002385)2.13954382
85Insidious onset (HP:0003587)2.13334464
86Termporal pattern (HP:0011008)2.13334464
87Abnormality of the gallbladder (HP:0005264)2.13163460
88Vomiting (HP:0002013)2.11297031
89Generalized aminoaciduria (HP:0002909)2.10855198
90Ketoacidosis (HP:0001993)2.10814526
91Exercise intolerance (HP:0003546)2.09633354
92Abnormality of dicarboxylic acid metabolism (HP:0010995)2.09179528
93Dicarboxylic aciduria (HP:0003215)2.09179528
94Nausea (HP:0002018)2.08887031
95Oral leukoplakia (HP:0002745)2.08514972
96Poor suck (HP:0002033)2.08032184
97Synostosis involving the elbow (HP:0003938)2.06928335
98Humeroradial synostosis (HP:0003041)2.06928335
99Brushfield spots (HP:0001088)2.06399055
100Hepatocellular carcinoma (HP:0001402)2.04691695
101Metabolic acidosis (HP:0001942)2.04662321
102* Parakeratosis (HP:0001036)2.04211473
103Amyloidosis (HP:0011034)2.04014769
104Coronal craniosynostosis (HP:0004440)2.03928491
105Respiratory failure (HP:0002878)2.03452812
106Delayed myelination (HP:0012448)2.02485667
107Hypoglycemic coma (HP:0001325)2.02265401
108Secondary amenorrhea (HP:0000869)2.02023459
109Cardiovascular calcification (HP:0011915)2.01761325
110Abnormality of urine glucose concentration (HP:0011016)2.00207616
111Glycosuria (HP:0003076)2.00207616
112Hypokinesia (HP:0002375)1.97438887
113Septate vagina (HP:0001153)1.97073024
114Enlarged kidneys (HP:0000105)1.96584728
115Methylmalonic aciduria (HP:0012120)1.95694044
116* Irritability (HP:0000737)1.95472003
117Protuberant abdomen (HP:0001538)1.95073154
118Type I transferrin isoform profile (HP:0003642)1.94269331
119Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.92505828
120Abnormality of the intrinsic pathway (HP:0010989)1.90637879
121Hepatic necrosis (HP:0002605)1.90117407
122Abnormal protein glycosylation (HP:0012346)1.89082851
123Abnormal glycosylation (HP:0012345)1.89082851
124Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.89082851
125Abnormal protein N-linked glycosylation (HP:0012347)1.89082851
126Abnormal mitochondria in muscle tissue (HP:0008316)1.88995575
127Abnormality of vitamin metabolism (HP:0100508)1.88203473
128Rough bone trabeculation (HP:0100670)1.87840845
129Abnormality of nucleobase metabolism (HP:0010932)1.85491356
130Cholelithiasis (HP:0001081)1.85048828
131Infantile muscular hypotonia (HP:0008947)1.84269956
132Meckel diverticulum (HP:0002245)1.84021512
133Reduced antithrombin III activity (HP:0001976)1.82696230
134Chromosomal breakage induced by crosslinking agents (HP:0003221)1.82358823
135Back pain (HP:0003418)1.82114408
136Proximal placement of thumb (HP:0009623)1.81916445
137Sclerocornea (HP:0000647)1.81384899
138Aplasia involving bones of the extremities (HP:0009825)1.80463388
139Aplasia involving bones of the upper limbs (HP:0009823)1.80463388
140Aplasia of the phalanges of the hand (HP:0009802)1.80463388
141Abnormality of the preputium (HP:0100587)1.80222229
142Progressive macrocephaly (HP:0004481)1.79893635
143Abnormality of abdominal situs (HP:0011620)1.79781658
144Abdominal situs inversus (HP:0003363)1.79781658
145Sensory axonal neuropathy (HP:0003390)1.79322017
146CNS demyelination (HP:0007305)1.78360027
147Aplasia/Hypoplasia of the uvula (HP:0010293)1.77871481
148Abnormal number of erythroid precursors (HP:0012131)1.77159129
149Chromsome breakage (HP:0040012)1.75828799
150Spastic diplegia (HP:0001264)1.75803754
151Cerebral hypomyelination (HP:0006808)1.75750703
152Macrocytic anemia (HP:0001972)1.74310998
153Onycholysis (HP:0001806)1.73203615
154Hemivertebrae (HP:0002937)1.73006123
155* X-linked dominant inheritance (HP:0001423)1.72390855
156Abnormality of the ileum (HP:0001549)1.71536791
157Abnormality of cells of the erythroid lineage (HP:0012130)1.71261441
158Hypoplasia of the capital femoral epiphysis (HP:0003090)1.70601465
159Abnormal number of incisors (HP:0011064)1.68233812
160Postnatal microcephaly (HP:0005484)1.63852389
161Deviation of the thumb (HP:0009603)1.63500247
162Facial cleft (HP:0002006)1.62729719
163Optic disc pallor (HP:0000543)1.62660164
164Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.62438750
165Abnormality of alanine metabolism (HP:0010916)1.62438750
166Hyperalaninemia (HP:0003348)1.62438750
167Birth length less than 3rd percentile (HP:0003561)1.62039853
168Preaxial hand polydactyly (HP:0001177)1.60449249
1693-Methylglutaconic aciduria (HP:0003535)1.59365180
170* Congenital ichthyosiform erythroderma (HP:0007431)1.59150318
171Respiratory difficulties (HP:0002880)1.58596723
172Hypoplastic female external genitalia (HP:0012815)1.58419916
173Abnormality of the labia (HP:0000058)1.55861179
174Trismus (HP:0000211)1.55692809
175Increased nuchal translucency (HP:0010880)1.54023259
176Facial hemangioma (HP:0000329)1.53128598
177* Hypoplastic pelvis (HP:0008839)1.52394278

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK394.92074813
2BUB13.71614783
3VRK23.56089962
4BCR3.29329866
5EPHB13.20522113
6OXSR13.12103403
7NEK13.06839382
8PBK3.05435104
9LIMK12.99086799
10EIF2AK12.91468273
11TESK22.91024101
12BCKDK2.74394319
13MARK12.69929130
14TRIM282.66268090
15ERBB42.62651836
16NME22.53550255
17TSSK62.49412892
18WNK42.39659450
19MET2.25777169
20DYRK22.19592014
21FGFR22.17760426
22CDC72.17365632
23TTK2.12042864
24PLK42.01786422
25CSNK1G31.98657991
26PLK31.85557905
27PKN11.82665502
28WEE11.79991222
29NME11.75515106
30PDK21.71278731
31MAP3K121.67619358
32NTRK11.65911376
33MAPKAPK51.58647448
34FGR1.58475417
35EPHA21.54554306
36CSNK1G21.53356453
37CSNK1G11.53252944
38CSNK1A1L1.50725237
39VRK11.48043181
40SIK11.45939353
41PAK41.45738166
42EIF2AK31.45266261
43BRSK11.42804167
44TNIK1.41918701
45PLK11.40683913
46STK161.35838699
47PNCK1.34008703
48PIM21.30808135
49ABL21.27497075
50MST1R1.25958994
51UHMK11.25850702
52TAF11.22202567
53MAPK131.20760067
54BMPR1B1.17059966
55WNK31.16518742
56NUAK11.16158520
57ZAK1.14887857
58BRSK21.12833545
59LATS21.12358682
60MUSK1.12186806
61PAK31.08447071
62AURKB1.07051029
63CDK141.04136525
64FGFR41.03538311
65MAP2K71.03462161
66DYRK31.03354088
67MST41.02777724
68CHEK21.02354468
69CASK0.99103348
70ROCK20.97838869
71TAOK30.91327212
72TESK10.90503805
73MAPK40.90328588
74PHKG10.90253742
75PHKG20.90253742
76ILK0.88791797
77CDK150.88604232
78SGK2230.88297235
79SGK4940.88297235
80CDK180.87839916
81PRKCI0.86403407
82MAP4K20.84344559
83MKNK10.84204484
84BRAF0.82535149
85ATR0.82276243
86PLK20.79049995
87CDK11A0.78172346
88NEK20.77616114
89LMTK20.76241343
90NTRK20.75939943
91LATS10.73782130
92CAMK2G0.72862728
93PRKCQ0.72006408
94EPHB20.71837105
95MINK10.70373596
96IRAK20.70323065
97PRKCZ0.69362318
98MAPK120.69253550
99PAK10.68754027
100EIF2AK20.68718924
101MKNK20.68284569
102CSNK2A10.67179127
103ERBB20.66272524
104INSRR0.66134278
105CLK10.65790474
106CDK80.65181234
107CSNK2A20.65051999
108CAMK2A0.64752183
109CHEK10.64574899
110CDK70.63519710
111EPHA40.62667629
112GSK3A0.62549391
113WNK10.62435156
114LRRK20.62189915
115CAMK2B0.61711152
116MAP2K40.61386261
117ADRBK10.60038774
118CDK190.59612854
119STK38L0.58357980
120PRKCE0.55544387
121CSNK1E0.55491270
122DDR20.54975716
123ERBB30.54744175
124IRAK30.53909205
125AKT20.53735931
126PIK3CA0.52984688
127MYLK0.50374444
128STK100.50202488
129ATM0.50130770
130DAPK10.49666462
131CAMK2D0.49525242
132PRKCG0.49389836
133MAP3K20.48552154
134PAK60.48384111
135IGF1R0.47643992
136IRAK10.47573427
137PRKACG0.46848385
138FGFR10.46716979
139FER0.46484488
140MAP3K80.46286231
141MAP2K10.45405872
142CDK90.44775875
143GRK60.44713929
144BMX0.44120030
145GRK50.42760752
146ROCK10.42682902
147EPHA30.42145056
148SMG10.40754433
149CDK10.39791202
150FYN0.38897954
151CDK50.38174268
152NEK90.37975849
153PRKG10.37566639
154DAPK30.37429187
155PRKACA0.37029323
156MAP3K40.36912317
157ARAF0.35717377
158CCNB10.34933788
159PRKACB0.34231572
160AURKA0.33690262
161TRPM70.33605456
162PTK20.32750805
163SRPK10.31657422
164NEK60.31100905

Predicted pathways (KEGG)

RankGene SetZ-score
1* Steroid biosynthesis_Homo sapiens_hsa001004.62150748
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.87223083
3Terpenoid backbone biosynthesis_Homo sapiens_hsa009003.72576127
4Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.66736132
5Primary bile acid biosynthesis_Homo sapiens_hsa001203.32592779
6Fatty acid elongation_Homo sapiens_hsa000622.83170675
7Butanoate metabolism_Homo sapiens_hsa006502.78695162
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.50788724
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.47309666
10Nitrogen metabolism_Homo sapiens_hsa009102.46935111
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.46344096
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.38176752
13Fatty acid metabolism_Homo sapiens_hsa012122.32348094
14DNA replication_Homo sapiens_hsa030302.28785905
15Fatty acid degradation_Homo sapiens_hsa000712.26914807
16Propanoate metabolism_Homo sapiens_hsa006402.22598261
17Mismatch repair_Homo sapiens_hsa034302.20693665
18Tryptophan metabolism_Homo sapiens_hsa003802.16537712
19Ribosome_Homo sapiens_hsa030102.14461670
20Peroxisome_Homo sapiens_hsa041462.02308093
21RNA polymerase_Homo sapiens_hsa030202.00346835
22Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.96612597
23Histidine metabolism_Homo sapiens_hsa003401.91269009
24Sulfur metabolism_Homo sapiens_hsa009201.87749477
25Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.86925940
26Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.86240248
27Complement and coagulation cascades_Homo sapiens_hsa046101.77448261
28Arginine biosynthesis_Homo sapiens_hsa002201.77107983
29Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.74324908
30Steroid hormone biosynthesis_Homo sapiens_hsa001401.70925395
31Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.69289701
32Pyruvate metabolism_Homo sapiens_hsa006201.69047133
33Chemical carcinogenesis_Homo sapiens_hsa052041.67877882
34Pentose and glucuronate interconversions_Homo sapiens_hsa000401.63081126
35Base excision repair_Homo sapiens_hsa034101.59935561
36PPAR signaling pathway_Homo sapiens_hsa033201.55210474
37beta-Alanine metabolism_Homo sapiens_hsa004101.45906755
38Spliceosome_Homo sapiens_hsa030401.45261534
39Nucleotide excision repair_Homo sapiens_hsa034201.44999356
40Retinol metabolism_Homo sapiens_hsa008301.44919809
41Homologous recombination_Homo sapiens_hsa034401.42897152
42Pyrimidine metabolism_Homo sapiens_hsa002401.35298970
43Tyrosine metabolism_Homo sapiens_hsa003501.35098674
44Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.29947231
45RNA transport_Homo sapiens_hsa030131.29581013
46Phenylalanine metabolism_Homo sapiens_hsa003601.24866636
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24258027
48Basal transcription factors_Homo sapiens_hsa030221.21963339
49Vitamin B6 metabolism_Homo sapiens_hsa007501.20579614
50Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.20220323
51Drug metabolism - other enzymes_Homo sapiens_hsa009831.18603722
52Fatty acid biosynthesis_Homo sapiens_hsa000611.15660794
53Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.12239903
54Fanconi anemia pathway_Homo sapiens_hsa034601.10972474
55Glutathione metabolism_Homo sapiens_hsa004801.09121923
56Bile secretion_Homo sapiens_hsa049761.09090491
57Non-homologous end-joining_Homo sapiens_hsa034501.07329076
58Folate biosynthesis_Homo sapiens_hsa007901.03575444
59Carbon metabolism_Homo sapiens_hsa012001.02478441
602-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.02308054
61Arginine and proline metabolism_Homo sapiens_hsa003301.01871756
62Cell cycle_Homo sapiens_hsa041100.99421350
63Cysteine and methionine metabolism_Homo sapiens_hsa002700.96920321
64RNA degradation_Homo sapiens_hsa030180.96889716
65Caffeine metabolism_Homo sapiens_hsa002320.93761523
66Ether lipid metabolism_Homo sapiens_hsa005650.92875369
67Fat digestion and absorption_Homo sapiens_hsa049750.89836236
68Biosynthesis of amino acids_Homo sapiens_hsa012300.88542732
69Staphylococcus aureus infection_Homo sapiens_hsa051500.88241664
70Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87231196
71Starch and sucrose metabolism_Homo sapiens_hsa005000.86044491
72Sulfur relay system_Homo sapiens_hsa041220.85988918
73Vitamin digestion and absorption_Homo sapiens_hsa049770.82009974
74Cyanoamino acid metabolism_Homo sapiens_hsa004600.80591985
75Selenocompound metabolism_Homo sapiens_hsa004500.79375877
76Purine metabolism_Homo sapiens_hsa002300.77366773
77alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.77182965
78N-Glycan biosynthesis_Homo sapiens_hsa005100.75020151
79Oxidative phosphorylation_Homo sapiens_hsa001900.71677450
80Vibrio cholerae infection_Homo sapiens_hsa051100.69876135
81Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.65656580
82Linoleic acid metabolism_Homo sapiens_hsa005910.65115456
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.64750879
84* Metabolic pathways_Homo sapiens_hsa011000.62783619
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.62677853
86Cardiac muscle contraction_Homo sapiens_hsa042600.57816943
87Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56637180
88Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.54559987
89ABC transporters_Homo sapiens_hsa020100.54358512
90Parkinsons disease_Homo sapiens_hsa050120.51125253
91Glycerolipid metabolism_Homo sapiens_hsa005610.49518210
92mRNA surveillance pathway_Homo sapiens_hsa030150.48081223
93Pentose phosphate pathway_Homo sapiens_hsa000300.45409894
94Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.40863245
95Proteasome_Homo sapiens_hsa030500.40279506
96Collecting duct acid secretion_Homo sapiens_hsa049660.39567605
97Alzheimers disease_Homo sapiens_hsa050100.38671831
98Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.38300964
99p53 signaling pathway_Homo sapiens_hsa041150.37122908
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.36371416
101Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.36200772
102Protein export_Homo sapiens_hsa030600.35052443
103Lysine degradation_Homo sapiens_hsa003100.33693556
104Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.30008013
105Oocyte meiosis_Homo sapiens_hsa041140.29892446
106Basal cell carcinoma_Homo sapiens_hsa052170.29493317
107Hippo signaling pathway_Homo sapiens_hsa043900.27575120
108One carbon pool by folate_Homo sapiens_hsa006700.26092910
109Sphingolipid metabolism_Homo sapiens_hsa006000.25568500
110Glycerophospholipid metabolism_Homo sapiens_hsa005640.25393227
111Maturity onset diabetes of the young_Homo sapiens_hsa049500.24282082
112Arachidonic acid metabolism_Homo sapiens_hsa005900.23073042
113Prion diseases_Homo sapiens_hsa050200.22586334
114TGF-beta signaling pathway_Homo sapiens_hsa043500.19434680
115Ovarian steroidogenesis_Homo sapiens_hsa049130.17234004
116Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.15091082
117Axon guidance_Homo sapiens_hsa043600.12158599
118Huntingtons disease_Homo sapiens_hsa050160.10419572
119Fructose and mannose metabolism_Homo sapiens_hsa000510.01584579
120Renin-angiotensin system_Homo sapiens_hsa046140.00909316
121Sphingolipid signaling pathway_Homo sapiens_hsa04071-0.1862673
122Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1800423
123Lysosome_Homo sapiens_hsa04142-0.1771680
124Renal cell carcinoma_Homo sapiens_hsa05211-0.1711988
125Malaria_Homo sapiens_hsa05144-0.1543959
126SNARE interactions in vesicular transport_Homo sapiens_hsa04130-0.1482617
127Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524-0.1161155
128AMPK signaling pathway_Homo sapiens_hsa04152-0.1120970
129Adipocytokine signaling pathway_Homo sapiens_hsa04920-0.0961198
130Phagosome_Homo sapiens_hsa04145-0.0867874
131Galactose metabolism_Homo sapiens_hsa00052-0.0791704
132Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514-0.0568107
133Mineral absorption_Homo sapiens_hsa04978-0.0385066

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »