ALDH7A1

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 a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.56969569
2L-phenylalanine catabolic process (GO:0006559)7.56969569
3L-phenylalanine metabolic process (GO:0006558)7.32086742
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.32086742
5aromatic amino acid family catabolic process (GO:0009074)6.80796668
6indole-containing compound catabolic process (GO:0042436)6.17510736
7indolalkylamine catabolic process (GO:0046218)6.17510736
8tryptophan catabolic process (GO:0006569)6.17510736
9kynurenine metabolic process (GO:0070189)6.03828193
10glyoxylate metabolic process (GO:0046487)6.00907211
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.95334412
12bile acid biosynthetic process (GO:0006699)5.85859088
13cysteine metabolic process (GO:0006534)5.84507139
14tryptophan metabolic process (GO:0006568)5.81653763
15alpha-linolenic acid metabolic process (GO:0036109)5.58727369
16sulfur amino acid catabolic process (GO:0000098)5.58255928
17urea metabolic process (GO:0019627)5.44692845
18urea cycle (GO:0000050)5.44692845
19serine family amino acid catabolic process (GO:0009071)5.41289730
20negative regulation of fibrinolysis (GO:0051918)5.31691845
21homocysteine metabolic process (GO:0050667)5.21793528
22high-density lipoprotein particle remodeling (GO:0034375)5.18910127
23regulation of protein activation cascade (GO:2000257)5.08634279
24peptidyl-glutamic acid carboxylation (GO:0017187)5.07257230
25protein carboxylation (GO:0018214)5.07257230
26complement activation, alternative pathway (GO:0006957)5.06255191
27regulation of fibrinolysis (GO:0051917)5.04503091
28nitrogen cycle metabolic process (GO:0071941)5.01340129
29fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.97852881
30aromatic amino acid family metabolic process (GO:0009072)4.94533023
31bile acid metabolic process (GO:0008206)4.92418462
32* alpha-amino acid catabolic process (GO:1901606)4.78785956
33* lysine metabolic process (GO:0006553)4.77665355
34* lysine catabolic process (GO:0006554)4.77665355
35regulation of complement activation (GO:0030449)4.77624379
36glycine metabolic process (GO:0006544)4.72056156
37serine family amino acid metabolic process (GO:0009069)4.62090719
38reverse cholesterol transport (GO:0043691)4.59736746
39cellular modified amino acid catabolic process (GO:0042219)4.59283981
40tyrosine metabolic process (GO:0006570)4.58991755
41regulation of cholesterol esterification (GO:0010872)4.52347277
42regulation of triglyceride catabolic process (GO:0010896)4.49031098
43* cellular amino acid catabolic process (GO:0009063)4.48721463
44* amino-acid betaine metabolic process (GO:0006577)4.47725127
45glutamate metabolic process (GO:0006536)4.47543091
46serine family amino acid biosynthetic process (GO:0009070)4.47520449
47plasma lipoprotein particle remodeling (GO:0034369)4.46236841
48protein-lipid complex remodeling (GO:0034368)4.46236841
49macromolecular complex remodeling (GO:0034367)4.46236841
50negative regulation of cholesterol transport (GO:0032375)4.43465539
51negative regulation of sterol transport (GO:0032372)4.43465539
52coenzyme catabolic process (GO:0009109)4.41780945
53cellular ketone body metabolic process (GO:0046950)4.36455758
54indolalkylamine metabolic process (GO:0006586)4.32745410
55triglyceride homeostasis (GO:0070328)4.32567033
56acylglycerol homeostasis (GO:0055090)4.32567033
57ethanol oxidation (GO:0006069)4.30465350
58cellular biogenic amine catabolic process (GO:0042402)4.23562493
59amine catabolic process (GO:0009310)4.23562493
60drug catabolic process (GO:0042737)4.22180577
61dicarboxylic acid biosynthetic process (GO:0043650)4.16580896
62phospholipid efflux (GO:0033700)4.16509072
63cellular glucuronidation (GO:0052695)4.16457297
64benzene-containing compound metabolic process (GO:0042537)4.14431068
65bile acid and bile salt transport (GO:0015721)4.13763357
66imidazole-containing compound metabolic process (GO:0052803)4.13418296
67plasma lipoprotein particle clearance (GO:0034381)4.05579905
68short-chain fatty acid metabolic process (GO:0046459)4.02104467
69arginine metabolic process (GO:0006525)3.97582719
70aldehyde catabolic process (GO:0046185)3.93691650
71* carboxylic acid catabolic process (GO:0046395)3.89066769
72* organic acid catabolic process (GO:0016054)3.89066769
73acetyl-CoA metabolic process (GO:0006084)3.88563689
74urate metabolic process (GO:0046415)3.86787851
75drug transmembrane transport (GO:0006855)3.83943405
76cholesterol efflux (GO:0033344)3.82550341
77exogenous drug catabolic process (GO:0042738)3.81913549
78low-density lipoprotein particle remodeling (GO:0034374)3.78360092
79ketone body metabolic process (GO:1902224)3.76199101
80regulation of cholesterol homeostasis (GO:2000188)3.73159714
812-oxoglutarate metabolic process (GO:0006103)3.72579364
82glucuronate metabolic process (GO:0019585)3.71300229
83uronic acid metabolic process (GO:0006063)3.71300229
84plasma lipoprotein particle assembly (GO:0034377)3.70666219
85fibrinolysis (GO:0042730)3.70145222
86* aspartate family amino acid catabolic process (GO:0009068)3.64002575
87regulation of bile acid biosynthetic process (GO:0070857)3.62486588
88cytolysis (GO:0019835)3.61724026
89cofactor catabolic process (GO:0051187)3.61601536
90response to nitrosative stress (GO:0051409)3.56647171
91complement activation, classical pathway (GO:0006958)3.56123474
92monocarboxylic acid catabolic process (GO:0072329)3.55356488
93cholesterol homeostasis (GO:0042632)3.55211876
94phospholipid homeostasis (GO:0055091)3.54949051
95fatty acid beta-oxidation (GO:0006635)3.52058927
96fatty acid oxidation (GO:0019395)3.51269866
97sterol homeostasis (GO:0055092)3.50737134
98regulation of gene silencing by RNA (GO:0060966)3.50544590
99regulation of posttranscriptional gene silencing (GO:0060147)3.50544590
100regulation of gene silencing by miRNA (GO:0060964)3.50544590
101epoxygenase P450 pathway (GO:0019373)3.50421810
102positive regulation of lipid catabolic process (GO:0050996)3.50131194
103complement activation (GO:0006956)3.50092870
104presynaptic membrane assembly (GO:0097105)3.25564921
105L-serine metabolic process (GO:0006563)3.20423778
106paraxial mesoderm development (GO:0048339)3.14893782
107postsynaptic membrane organization (GO:0001941)2.90617753
108chromatin remodeling at centromere (GO:0031055)2.81791889
109water-soluble vitamin biosynthetic process (GO:0042364)2.77474672
110lateral sprouting from an epithelium (GO:0060601)2.75274324
111presynaptic membrane organization (GO:0097090)2.72942184
112notochord development (GO:0030903)2.69213083
113pyrimidine nucleobase catabolic process (GO:0006208)2.67009536
114behavioral response to nicotine (GO:0035095)2.63398908
115DNA strand renaturation (GO:0000733)2.61766516
116CENP-A containing nucleosome assembly (GO:0034080)2.61309678
117lung-associated mesenchyme development (GO:0060484)2.58763283
118dorsal/ventral axis specification (GO:0009950)2.58248234
119otic vesicle formation (GO:0030916)2.57706416
120nonmotile primary cilium assembly (GO:0035058)2.50670715
121regulation of non-canonical Wnt signaling pathway (GO:2000050)2.50506575
122limb bud formation (GO:0060174)2.46111304
123regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.39758506
124histone exchange (GO:0043486)2.37452789
125anterior/posterior axis specification, embryo (GO:0008595)2.37371586
126regulation of centriole replication (GO:0046599)2.33728211
127establishment of protein localization to mitochondrial membrane (GO:0090151)2.30538966
128DNA replication checkpoint (GO:0000076)2.29888328
129replication fork processing (GO:0031297)2.29027094
130kidney morphogenesis (GO:0060993)2.29008216
131protein localization to kinetochore (GO:0034501)2.27695712
132regulation of hippo signaling (GO:0035330)2.27450155
133nucleobase catabolic process (GO:0046113)2.25695015
134regulation of nuclear cell cycle DNA replication (GO:0033262)2.25268832
135DNA damage response, detection of DNA damage (GO:0042769)2.23394099
136establishment of integrated proviral latency (GO:0075713)2.23140750
137negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.21260016
138negative regulation of translation, ncRNA-mediated (GO:0040033)2.21260016
139regulation of translation, ncRNA-mediated (GO:0045974)2.21260016
140regulation of mesoderm development (GO:2000380)2.19942924
141organ growth (GO:0035265)2.15150016
142negative regulation of DNA-dependent DNA replication (GO:2000104)2.14896318
143cellular response to cholesterol (GO:0071397)2.14050226
144C4-dicarboxylate transport (GO:0015740)2.12051698
145detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.10393619
146retinal ganglion cell axon guidance (GO:0031290)2.09393244
147protein K6-linked ubiquitination (GO:0085020)2.06970341
148somatic diversification of immune receptors via somatic mutation (GO:0002566)2.04827392
149somatic hypermutation of immunoglobulin genes (GO:0016446)2.04827392
150heterochromatin organization (GO:0070828)2.04804389
151G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:00071992.01394208
152DNA replication-independent nucleosome assembly (GO:0006336)1.98471307
153DNA replication-independent nucleosome organization (GO:0034724)1.98471307
154midbrain development (GO:0030901)1.98079857
155vocalization behavior (GO:0071625)1.97384013
156embryonic pattern specification (GO:0009880)1.97088166
157mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)1.95823789
158prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060521.95466168
159somite development (GO:0061053)1.95217310
160cranial nerve development (GO:0021545)1.95160302
161negative regulation of astrocyte differentiation (GO:0048712)1.93690423
162regulation of cell fate specification (GO:0042659)1.93105001
163cell-cell signaling involved in cell fate commitment (GO:0045168)1.92525784
164nodal signaling pathway (GO:0038092)1.90976050
165amino acid salvage (GO:0043102)1.90054521
166L-methionine salvage (GO:0071267)1.90054521
167L-methionine biosynthetic process (GO:0071265)1.90054521
168mitochondrial ATP synthesis coupled proton transport (GO:0042776)1.88252179
169regulation of mitotic spindle checkpoint (GO:1903504)1.87773850
170regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)1.87773850
171developmental induction (GO:0031128)1.86832919
172spinal cord development (GO:0021510)1.86402811
173outer ear morphogenesis (GO:0042473)1.86344143
174retinal cone cell development (GO:0046549)1.85999295
175thalamus development (GO:0021794)1.85423744
176convergent extension (GO:0060026)1.85179009
177mitotic metaphase plate congression (GO:0007080)1.84914813
178oxidative demethylation (GO:0070989)1.84592211
179cellular response to sterol (GO:0036315)1.84330950
180organ induction (GO:0001759)1.83547820
181mitotic sister chromatid segregation (GO:0000070)1.83234194
182DNA replication-dependent nucleosome organization (GO:0034723)1.83027684
183DNA replication-dependent nucleosome assembly (GO:0006335)1.83027684
184cell fate commitment involved in formation of primary germ layer (GO:0060795)1.82942865
185embryonic axis specification (GO:0000578)1.82514566
186respiratory chain complex IV assembly (GO:0008535)1.81670484
187neuron cell-cell adhesion (GO:0007158)1.81585750

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.33877362
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.21076399
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.60087376
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.42159456
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.16867567
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.09834376
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.87632420
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.97675624
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.88409571
10GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.84597037
11ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.52070767
12ZNF274_21170338_ChIP-Seq_K562_Hela2.46431245
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.30015252
14TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.26686058
15GBX2_23144817_ChIP-Seq_PC3_Human2.15788059
16HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.14062061
17TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.10132522
18FUS_26573619_Chip-Seq_HEK293_Human2.04257773
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.9560444
20E2F7_22180533_ChIP-Seq_HELA_Human1.98864640
21E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.98479742
22EZH2_22144423_ChIP-Seq_EOC_Human1.95161363
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.93316124
24MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.92644969
25CLOCK_20551151_ChIP-Seq_293T_Human1.91737179
26EWS_26573619_Chip-Seq_HEK293_Human1.91476458
27FOXM1_23109430_ChIP-Seq_U2OS_Human1.84777497
28POU5F1_16153702_ChIP-ChIP_HESCs_Human1.84019655
29VDR_22108803_ChIP-Seq_LS180_Human1.78975063
30E2F4_17652178_ChIP-ChIP_JURKAT_Human1.71675121
31ZFP57_27257070_Chip-Seq_ESCs_Mouse1.70154690
32TAF15_26573619_Chip-Seq_HEK293_Human1.69640073
33* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.69623146
34P300_19829295_ChIP-Seq_ESCs_Human1.68389132
35CTBP2_25329375_ChIP-Seq_LNCAP_Human1.67092154
36FOXA2_19822575_ChIP-Seq_HepG2_Human1.62874868
37RBPJ_22232070_ChIP-Seq_NCS_Mouse1.62869137
38CTBP1_25329375_ChIP-Seq_LNCAP_Human1.53134947
39IGF1R_20145208_ChIP-Seq_DFB_Human1.51978831
40HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.47854528
41FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.47626301
42* HNF4A_19822575_ChIP-Seq_HepG2_Human1.45977835
43* SOX2_16153702_ChIP-ChIP_HESCs_Human1.45007587
44ESR1_15608294_ChIP-ChIP_MCF-7_Human1.43249138
45EST1_17652178_ChIP-ChIP_JURKAT_Human1.42597885
46GABP_17652178_ChIP-ChIP_JURKAT_Human1.42442681
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.39888570
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.38492512
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34602223
50HTT_18923047_ChIP-ChIP_STHdh_Human1.33969507
51* MYC_18940864_ChIP-ChIP_HL60_Human1.32016519
52NANOG_16153702_ChIP-ChIP_HESCs_Human1.31910017
53CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.31205160
54MYC_18555785_ChIP-Seq_MESCs_Mouse1.30118375
55TP63_19390658_ChIP-ChIP_HaCaT_Human1.29959223
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.29457103
57CBX2_27304074_Chip-Seq_ESCs_Mouse1.29444788
58RARG_19884340_ChIP-ChIP_MEFs_Mouse1.29274601
59CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.24589810
60ELK1_19687146_ChIP-ChIP_HELA_Human1.23985223
61TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22762529
62POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22762529
63RXRA_24833708_ChIP-Seq_LIVER_Mouse1.22422838
64SOX2_18555785_ChIP-Seq_MESCs_Mouse1.22059938
65AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21535663
66TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.20052095
67BMI1_23680149_ChIP-Seq_NPCS_Mouse1.19976452
68SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18035541
69TBX3_20139965_ChIP-Seq_ESCs_Mouse1.17728947
70TBX3_20139965_ChIP-Seq_MESCs_Mouse1.17555725
71KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.17548076
72CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.17477649
73IRF1_19129219_ChIP-ChIP_H3396_Human1.16483153
74THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.16037028
75RNF2_27304074_Chip-Seq_NSC_Mouse1.15981969
76MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.15963087
77EZH2_27304074_Chip-Seq_ESCs_Mouse1.15866836
78GATA1_22025678_ChIP-Seq_K562_Human1.15412476
79SMAD3_21741376_ChIP-Seq_EPCs_Human1.15218329
80* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.15015496
81EED_16625203_ChIP-ChIP_MESCs_Mouse1.12472715
82ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.12446774
83* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11146857
84STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.10246889
85PCGF2_27294783_Chip-Seq_ESCs_Mouse1.09216935
86PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.08498976
87ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.08136473
88NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.07818843
89* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.07406598
90SMAD4_21799915_ChIP-Seq_A2780_Human1.06446273
91KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.05841832
92SOX2_27498859_Chip-Seq_STOMACH_Mouse1.05067725
93SOX9_26525672_Chip-Seq_HEART_Mouse1.03462524
94STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.02703940
95PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02596687
96SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02338170
97POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.01974272
98* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01556914
99STAT3_23295773_ChIP-Seq_U87_Human1.01210308
100KLF5_20875108_ChIP-Seq_MESCs_Mouse1.00491081
101TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.00271150
102PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00194131
103TOP2B_26459242_ChIP-Seq_MCF-7_Human0.99677931
104AR_21572438_ChIP-Seq_LNCaP_Human0.98615661
105PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97938382
106MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.97792110
107NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.97150696
108GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.96447229
109STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.95965670
110RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.95449311
111* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94975068
112ESR2_21235772_ChIP-Seq_MCF-7_Human0.94293939
113TCF4_22108803_ChIP-Seq_LS180_Human0.94108122
114GATA4_25053715_ChIP-Seq_YYC3_Human0.93210884
115TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.92414215
116SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.92407577
117PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.92322758
118REST_21632747_ChIP-Seq_MESCs_Mouse0.92115048
119CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91154311
120STAT3_1855785_ChIP-Seq_MESCs_Mouse0.90385362
121ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.89878414
122AR_25329375_ChIP-Seq_VCAP_Human0.89798033
123SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.89774297
124OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89471036
125SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.89138480
126CREB1_15753290_ChIP-ChIP_HEK293T_Human0.89028633
127SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.88942696
128* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88796618
129PADI4_21655091_ChIP-ChIP_MCF-7_Human0.88748207
130CBP_20019798_ChIP-Seq_JUKART_Human0.88583863
131IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.88583863
132TCF3_18692474_ChIP-Seq_MESCs_Mouse0.88297249
133ZNF263_19887448_ChIP-Seq_K562_Human0.87280832
134ESR1_21235772_ChIP-Seq_MCF-7_Human0.84603301
135RARA_24833708_ChIP-Seq_LIVER_Mouse0.81155306
136SALL4_18804426_ChIP-ChIP_XEN_Mouse0.79819261
137LXR_22292898_ChIP-Seq_THP-1_Human0.78668947
138SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.76097659
139AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.75251104
140CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.74690767
141ERG_21242973_ChIP-ChIP_JURKAT_Human0.73324622
142* AUTS2_25519132_ChIP-Seq_293T-REX_Human0.72273790
143BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.69207720
144POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.66434495
145RARB_24833708_ChIP-Seq_LIVER_Mouse0.66194883
146KAP1_22055183_ChIP-Seq_ESCs_Mouse0.64970207
147* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.64101374
148NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.63835711
149BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.58260812
150CEBPB_22108803_ChIP-Seq_LS180_Human0.56676620
151FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.55521584
152IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.55277568
153GATA6_25053715_ChIP-Seq_YYC3_Human0.54544954
154NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.54354227
155NRF2_20460467_ChIP-Seq_MEFs_Mouse0.54354227
156FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.52935013
157MYC_19915707_ChIP-ChIP_AK7_Human0.51941589
158STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.51084052
159FOXO3_23340844_ChIP-Seq_DLD1_Human0.50789902
160ESET_19884257_ChIP-Seq_ESCs_Mouse0.50359772
161CDX2_20551321_ChIP-Seq_CACO-2_Human0.50234922
162RACK7_27058665_Chip-Seq_MCF-7_Human0.50112498
163GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.49992234
164PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.48373722
165EGR1_19032775_ChIP-ChIP_M12_Human0.48264483
166* AR_20517297_ChIP-Seq_VCAP_Human0.47801600
167FOXA1_25552417_ChIP-Seq_VCAP_Human0.47627361
168RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.47578616
169AR_21909140_ChIP-Seq_LNCAP_Human0.47557816
170SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.47445754
171CBP_21632823_ChIP-Seq_H3396_Human0.46644472
172P53_21459846_ChIP-Seq_SAOS-2_Human0.46502923
173NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.45957773
174PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.44227759
175SOX2_18692474_ChIP-Seq_MEFs_Mouse0.43960813
176SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.43740519
177FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.43400191
178TET1_21451524_ChIP-Seq_MESCs_Mouse0.43168559
179TAF2_19829295_ChIP-Seq_ESCs_Human0.43151217
180PPAR_26484153_Chip-Seq_NCI-H1993_Human0.42380323
181PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.42068216
182GATA3_24758297_ChIP-Seq_MCF-7_Human0.41987991
183ESR1_20079471_ChIP-ChIP_T-47D_Human0.41411694
184SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.41399257
185CREB1_26743006_Chip-Seq_LNCaP_Human0.41207932
186TCF3_18692474_ChIP-Seq_MEFs_Mouse0.41083539
187TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.40678555
188MYC_27129775_Chip-Seq_CORNEA_Mouse0.39385105
189OCT4_18692474_ChIP-Seq_MEFs_Mouse0.39346583
190TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.37298479
191STAT1_17558387_ChIP-Seq_HELA_Human0.36987660
192* NANOG_16518401_ChIP-PET_MESCs_Mouse0.36931985
193P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.36728170
194CSB_26484114_Chip-Seq_FIBROBLAST_Human0.36504039
195BCOR_27268052_Chip-Seq_Bcells_Human0.36164174
196ERG_20517297_ChIP-Seq_VCAP_Human0.36025966

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.24087264
2MP0005360_urolithiasis7.59679635
3MP0005085_abnormal_gallbladder_physiolo6.30702617
4MP0005365_abnormal_bile_salt6.18615432
5MP0008875_abnormal_xenobiotic_pharmacok4.93401750
6MP0003806_abnormal_nucleotide_metabolis4.28670688
7MP0003252_abnormal_bile_duct3.87233736
8MP0010329_abnormal_lipoprotein_level3.44567545
9MP0005083_abnormal_biliary_tract3.26445292
10MP0003136_yellow_coat_color3.25989945
11MP0005332_abnormal_amino_acid3.11558218
12MP0009840_abnormal_foam_cell3.03993221
13MP0001666_abnormal_nutrient_absorption2.84811586
14MP0003195_calcinosis2.83818676
15MP0010030_abnormal_orbit_morphology2.78744715
16MP0006292_abnormal_olfactory_placode2.63402651
17MP0000566_synostosis2.56664190
18MP0004019_abnormal_vitamin_homeostasis2.41722930
19MP0002938_white_spotting2.28767344
20MP0003191_abnormal_cellular_cholesterol2.05724565
21MP0000609_abnormal_liver_physiology2.04875386
22MP0002118_abnormal_lipid_homeostasis2.04709972
23MP0002138_abnormal_hepatobiliary_system1.99663021
24MP0003890_abnormal_embryonic-extraembry1.99203305
25MP0001293_anophthalmia1.98738619
26MP0003868_abnormal_feces_composition1.94762438
27MP0005377_hearing/vestibular/ear_phenot1.91452280
28MP0003878_abnormal_ear_physiology1.91452280
29MP0003941_abnormal_skin_development1.87371889
30MP0005319_abnormal_enzyme/_coenzyme1.85308737
31MP0003937_abnormal_limbs/digits/tail_de1.85291807
32MP0002102_abnormal_ear_morphology1.76100026
33MP0003119_abnormal_digestive_system1.75015885
34MP0004133_heterotaxia1.73292273
35MP0001764_abnormal_homeostasis1.61999117
36MP0002697_abnormal_eye_size1.57344291
37MP0005584_abnormal_enzyme/coenzyme_acti1.56498108
38MP0003880_abnormal_central_pattern1.56324057
39MP0000778_abnormal_nervous_system1.54423301
40MP0006072_abnormal_retinal_apoptosis1.53533635
41MP0003705_abnormal_hypodermis_morpholog1.51095192
42MP0009643_abnormal_urine_homeostasis1.49330052
43MP0002638_abnormal_pupillary_reflex1.47620363
44MP0003186_abnormal_redox_activity1.39858372
45MP0002233_abnormal_nose_morphology1.39712368
46MP0004885_abnormal_endolymph1.38727095
47MP0003011_delayed_dark_adaptation1.37369092
48MP0009697_abnormal_copulation1.35940533
49MP0005551_abnormal_eye_electrophysiolog1.35936507
50MP0002234_abnormal_pharynx_morphology1.34762606
51MP0008877_abnormal_DNA_methylation1.34687702
52MP0001485_abnormal_pinna_reflex1.34643828
53MP0003693_abnormal_embryo_hatching1.33562790
54MP0000049_abnormal_middle_ear1.33279102
55MP0003122_maternal_imprinting1.29846623
56MP0001286_abnormal_eye_development1.29782776
57MP0002736_abnormal_nociception_after1.29348296
58MP0005451_abnormal_body_composition1.26119266
59MP0001984_abnormal_olfaction1.25991421
60MP0003567_abnormal_fetal_cardiomyocyte1.23038473
61MP0002653_abnormal_ependyma_morphology1.21314242
62MP0001299_abnormal_eye_distance/1.20833136
63MP0001529_abnormal_vocalization1.20703063
64MP0010094_abnormal_chromosome_stability1.20183776
65MP0008058_abnormal_DNA_repair1.19076660
66MP0005253_abnormal_eye_physiology1.18767726
67MP0000598_abnormal_liver_morphology1.17330122
68MP0003755_abnormal_palate_morphology1.16211445
69MP0005647_abnormal_sex_gland1.12193239
70MP0000647_abnormal_sebaceous_gland1.10948050
71MP0008932_abnormal_embryonic_tissue1.09369974
72MP0003283_abnormal_digestive_organ1.09237272
73MP0000537_abnormal_urethra_morphology1.08720936
74MP0000631_abnormal_neuroendocrine_gland1.08646160
75MP0001346_abnormal_lacrimal_gland1.08624590
76MP0005391_vision/eye_phenotype1.07501479
77MP0005636_abnormal_mineral_homeostasis1.07457762
78MP0003861_abnormal_nervous_system1.05104053
79MP0006276_abnormal_autonomic_nervous1.04159815
80MP0003656_abnormal_erythrocyte_physiolo1.04091330
81MP0005084_abnormal_gallbladder_morpholo1.03982046
82MP0005220_abnormal_exocrine_pancreas1.03627882
83MP0008789_abnormal_olfactory_epithelium1.02887890
84MP0003111_abnormal_nucleus_morphology1.02606908
85MP0002111_abnormal_tail_morphology1.01494355
86MP0001486_abnormal_startle_reflex1.01331910
87MP0004272_abnormal_basement_membrane1.00763242
88MP0004957_abnormal_blastocyst_morpholog1.00758367
89MP0003938_abnormal_ear_development1.00199050
90MP0002254_reproductive_system_inflammat0.99806304
91MP0001968_abnormal_touch/_nociception0.99300565
92MP0003942_abnormal_urinary_system0.97869794
93MP0009250_abnormal_appendicular_skeleto0.96526831
94MP0003121_genomic_imprinting0.95972543
95MP0009764_decreased_sensitivity_to0.95273121
96MP0000762_abnormal_tongue_morphology0.94668454
97MP0005257_abnormal_intraocular_pressure0.94332849
98MP0005187_abnormal_penis_morphology0.94033286
99MP0000026_abnormal_inner_ear0.93477037
100MP0002751_abnormal_autonomic_nervous0.93062391
101MP0005171_absent_coat_pigmentation0.92811806
102MP0000383_abnormal_hair_follicle0.92312244
103MP0010368_abnormal_lymphatic_system0.92158177
104MP0002084_abnormal_developmental_patter0.91705719
105MP0000428_abnormal_craniofacial_morphol0.90754678
106MP0000604_amyloidosis0.89924434
107MP0005195_abnormal_posterior_eye0.89611792
108MP0006036_abnormal_mitochondrial_physio0.89341583
109MP0005423_abnormal_somatic_nervous0.88704414
110MP0002282_abnormal_trachea_morphology0.88622127
111MP0005670_abnormal_white_adipose0.88007879
112MP0005394_taste/olfaction_phenotype0.87977854
113MP0005499_abnormal_olfactory_system0.87977854
114MP0009763_increased_sensitivity_to0.87143463
115MP0000955_abnormal_spinal_cord0.86946166
116MP0002092_abnormal_eye_morphology0.86465464
117MP0002752_abnormal_somatic_nervous0.85272347
118MP0001756_abnormal_urination0.84435980
119MP0002272_abnormal_nervous_system0.84353269
120MP0009642_abnormal_blood_homeostasis0.83677857
121MP0002557_abnormal_social/conspecific_i0.83638371
122MP0002085_abnormal_embryonic_tissue0.82715024
123MP0003385_abnormal_body_wall0.82685601
124MP0009053_abnormal_anal_canal0.81954257
125MP0002184_abnormal_innervation0.80850370
126MP0001324_abnormal_eye_pigmentation0.78028292
127MP0005408_hypopigmentation0.77937680
128MP0009745_abnormal_behavioral_response0.77920035
129MP0002160_abnormal_reproductive_system0.77678429
130MP0003935_abnormal_craniofacial_develop0.77588590
131MP0001963_abnormal_hearing_physiology0.77078325
132MP0000427_abnormal_hair_cycle0.76971487
133MP0002078_abnormal_glucose_homeostasis0.76942888
134MP0000569_abnormal_digit_pigmentation0.76675606
135MP0002152_abnormal_brain_morphology0.76564548
136MP0000534_abnormal_ureter_morphology0.76389154
137MP0005376_homeostasis/metabolism_phenot0.76037764
138MP0008469_abnormal_protein_level0.73052796
139MP0004043_abnormal_pH_regulation0.68537491
140MP0004130_abnormal_muscle_cell0.68265932
141MP0009765_abnormal_xenobiotic_induced0.67884012
142MP0002876_abnormal_thyroid_physiology0.67642944
143MP0005266_abnormal_metabolism0.65903925
144MP0002971_abnormal_brown_adipose0.65335418
145MP0005535_abnormal_body_temperature0.65067235
146MP0003329_amyloid_beta_deposits0.64000653
147MP0002136_abnormal_kidney_physiology0.62571738
148MP0001661_extended_life_span0.62113949
149MP0005334_abnormal_fat_pad0.60785435
150MP0003690_abnormal_glial_cell0.59525542
151MP0006035_abnormal_mitochondrial_morpho0.57918846
152MP0000639_abnormal_adrenal_gland0.57219024
153MP0009384_cardiac_valve_regurgitation0.56675983
154MP0003638_abnormal_response/metabolism_0.54776497
155MP0005666_abnormal_adipose_tissue0.51030018
156MP0005395_other_phenotype0.49699630
157MP0002928_abnormal_bile_duct0.49447211
158MP0005448_abnormal_energy_balance0.48953779
159MP0009672_abnormal_birth_weight0.47637154
160MP0003953_abnormal_hormone_level0.43002700
161MP0005248_abnormal_Harderian_gland0.42964461
162MP0003718_maternal_effect0.42780659
163MP0004264_abnormal_extraembryonic_tissu0.42464431
164MP0001765_abnormal_ion_homeostasis0.40162342
165MP0008872_abnormal_physiological_respon0.39915367
166MP0002796_impaired_skin_barrier0.38886106
167MP0008874_decreased_physiological_sensi0.38806190
168MP0003075_altered_response_to0.38615071
169MP0002168_other_aberrant_phenotype0.37907112
170MP0008873_increased_physiological_sensi0.36131118
171MP0000230_abnormal_systemic_arterial0.35307475
172MP0005166_decreased_susceptibility_to0.34763394
173MP0002135_abnormal_kidney_morphology0.33347626
174MP0005058_abnormal_lysosome_morphology0.32886756
175MP0010234_abnormal_vibrissa_follicle0.32615194
176MP0002822_catalepsy0.32431351
177MP0004782_abnormal_surfactant_physiolog0.31882397
178MP0000579_abnormal_nail_morphology0.31312377
179MP0005167_abnormal_blood-brain_barrier0.30293677
180MP0009115_abnormal_fat_cell0.30213225
181MP0003959_abnormal_lean_body0.29493184
182MP0002970_abnormal_white_adipose0.29425772
183MP0002269_muscular_atrophy0.28103033
184MP0002837_dystrophic_cardiac_calcinosis0.26631480
185MP0001944_abnormal_pancreas_morphology0.26490516
186MP0002060_abnormal_skin_morphology0.24892442
187MP0001243_abnormal_dermal_layer0.23917018
188MP0000538_abnormal_urinary_bladder0.23126354
189MP0001881_abnormal_mammary_gland0.22847816
190MP0005595_abnormal_vascular_smooth0.22713617

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.23212052
2Intrahepatic cholestasis (HP:0001406)7.09630268
3Deep venous thrombosis (HP:0002625)6.98281027
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.54172122
5Xanthomatosis (HP:0000991)6.05292149
6Hypobetalipoproteinemia (HP:0003563)6.04075290
7Prolonged partial thromboplastin time (HP:0003645)5.83227428
8Complement deficiency (HP:0004431)5.14104250
9Hyperlipoproteinemia (HP:0010980)5.05365211
10Hyperglycinemia (HP:0002154)4.84170197
11Hyperammonemia (HP:0001987)4.80961437
12Hyperglycinuria (HP:0003108)4.61213683
13Hypolipoproteinemia (HP:0010981)4.54464148
14Ketosis (HP:0001946)4.52615769
15Abnormality of glutamine family amino acid metabolism (HP:0010902)4.50884245
16Abnormality of glycine metabolism (HP:0010895)4.47055079
17Abnormality of serine family amino acid metabolism (HP:0010894)4.47055079
18Abnormality of sulfur amino acid metabolism (HP:0004339)4.40378574
19Abnormality of aspartate family amino acid metabolism (HP:0010899)4.27762936
20Joint hemorrhage (HP:0005261)4.22067789
21Epidermoid cyst (HP:0200040)4.16882788
22Abnormality of the common coagulation pathway (HP:0010990)4.15352800
23Abnormality of methionine metabolism (HP:0010901)4.13957103
24Fat malabsorption (HP:0002630)4.13629791
25Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.07716536
26Hypoalphalipoproteinemia (HP:0003233)3.97128279
27Hypoglycemic coma (HP:0001325)3.88672160
28Abnormality of pyrimidine metabolism (HP:0004353)3.83089766
29Abnormality of complement system (HP:0005339)3.70231886
30Abnormality of the intrinsic pathway (HP:0010989)3.67656095
31Abnormality of fatty-acid metabolism (HP:0004359)3.51709641
32Conjugated hyperbilirubinemia (HP:0002908)3.42120323
33Delayed CNS myelination (HP:0002188)3.41574725
34Ketoacidosis (HP:0001993)3.39797554
35Gout (HP:0001997)3.36434149
36Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.35191566
37Hypercholesterolemia (HP:0003124)3.31401532
38Abnormality of nucleobase metabolism (HP:0010932)3.29919611
39Abnormality of serum amino acid levels (HP:0003112)3.25963204
40Hyperbilirubinemia (HP:0002904)3.21846870
41Steatorrhea (HP:0002570)3.21669721
42Abnormality of purine metabolism (HP:0004352)3.03334533
43Hepatocellular carcinoma (HP:0001402)3.00125027
44Metabolic acidosis (HP:0001942)2.86088992
45Spastic diplegia (HP:0001264)2.76067652
46Lethargy (HP:0001254)2.75477029
47Abnormality of dicarboxylic acid metabolism (HP:0010995)2.72923531
48Dicarboxylic aciduria (HP:0003215)2.72923531
49Vascular calcification (HP:0004934)2.71398358
50Pancreatic cysts (HP:0001737)2.70503082
51Pancreatic fibrosis (HP:0100732)2.70273590
52Myocardial infarction (HP:0001658)2.69621899
53True hermaphroditism (HP:0010459)2.67251714
54Skin nodule (HP:0200036)2.66841134
55Septo-optic dysplasia (HP:0100842)2.64373382
56Spontaneous abortion (HP:0005268)2.63962081
57Abnormality of the labia minora (HP:0012880)2.63466108
58Colon cancer (HP:0003003)2.63179405
59Malnutrition (HP:0004395)2.56178651
60Hypochromic microcytic anemia (HP:0004840)2.55564450
61Anophthalmia (HP:0000528)2.50929254
62Neonatal onset (HP:0003623)2.50465779
63Systemic lupus erythematosus (HP:0002725)2.47224669
64Cardiovascular calcification (HP:0011915)2.43851668
65Hypoglycemic seizures (HP:0002173)2.43201209
66Irritability (HP:0000737)2.41391744
67Late onset (HP:0003584)2.39801093
68Cerebral edema (HP:0002181)2.39309172
69Esophageal atresia (HP:0002032)2.35998233
70Generalized aminoaciduria (HP:0002909)2.34107634
71Coronal craniosynostosis (HP:0004440)2.32845203
72Bilateral microphthalmos (HP:0007633)2.32075482
73Molar tooth sign on MRI (HP:0002419)2.31768434
74Abnormality of midbrain morphology (HP:0002418)2.31768434
75Abnormal gallbladder morphology (HP:0012437)2.29847930
76Sensorimotor neuropathy (HP:0007141)2.29337668
77Cholelithiasis (HP:0001081)2.26973022
78Enlarged kidneys (HP:0000105)2.26452787
79Proximal tubulopathy (HP:0000114)2.26012299
80Preaxial foot polydactyly (HP:0001841)2.23404265
81Abnormal gallbladder physiology (HP:0012438)2.22873430
82Cholecystitis (HP:0001082)2.22873430
83Increased purine levels (HP:0004368)2.21329383
84Hyperuricemia (HP:0002149)2.21329383
85Vomiting (HP:0002013)2.20903182
86Esophageal varix (HP:0002040)2.20817413
87Hydroxyprolinuria (HP:0003080)2.19991120
88Abnormality of proline metabolism (HP:0010907)2.19991120
89Mitral stenosis (HP:0001718)2.19236973
90Pancreatitis (HP:0001733)2.19183810
91Alkalosis (HP:0001948)2.17276940
92Acanthocytosis (HP:0001927)2.16758506
93Rickets (HP:0002748)2.15128752
94Glomerulonephritis (HP:0000099)2.12699705
95Nephronophthisis (HP:0000090)2.11387742
96Birth length less than 3rd percentile (HP:0003561)2.10154963
97Brushfield spots (HP:0001088)2.07270040
98Meckel diverticulum (HP:0002245)2.06191636
99Partial duplication of thumb phalanx (HP:0009944)2.04683826
100Opisthotonus (HP:0002179)2.04452764
101Preaxial hand polydactyly (HP:0001177)2.03500634
102Absent radius (HP:0003974)2.00819266
103Abnormal cartilage morphology (HP:0002763)1.99785489
104Hyperinsulinemic hypoglycemia (HP:0000825)1.99711626
105Abnormal enzyme/coenzyme activity (HP:0012379)1.99531535
106Patellar aplasia (HP:0006443)1.97081225
107Gastrointestinal atresia (HP:0002589)1.97045424
108Medial flaring of the eyebrow (HP:0010747)1.96750665
109Abnormality of the ileum (HP:0001549)1.95916402
110Amyloidosis (HP:0011034)1.95426950
111Triphalangeal thumb (HP:0001199)1.95283419
112Optic nerve hypoplasia (HP:0000609)1.94956109
113Absent forearm bone (HP:0003953)1.94290200
114Aplasia involving forearm bones (HP:0009822)1.94290200
115Cystic liver disease (HP:0006706)1.93713580
116Back pain (HP:0003418)1.93302943
117Anencephaly (HP:0002323)1.93262284
118Abnormality of the gallbladder (HP:0005264)1.92464457
119Sclerocornea (HP:0000647)1.92107735
120Vaginal atresia (HP:0000148)1.91697986
121Partial duplication of the phalanx of hand (HP:0009999)1.91558024
122Genital tract atresia (HP:0001827)1.91038123
123Aplasia/Hypoplasia of the uvula (HP:0010293)1.90437296
124Bifid tongue (HP:0010297)1.90436921
125Cutaneous finger syndactyly (HP:0010554)1.89765882
126Hypophosphatemic rickets (HP:0004912)1.89520359
127Thrombophlebitis (HP:0004418)1.87002751
128Aplasia involving bones of the extremities (HP:0009825)1.85750384
129Aplasia involving bones of the upper limbs (HP:0009823)1.85750384
130Aplasia of the phalanges of the hand (HP:0009802)1.85750384
131Rib fusion (HP:0000902)1.85589470
132Pendular nystagmus (HP:0012043)1.84712726
133Gait imbalance (HP:0002141)1.84404444
134Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.83440384
135Aplasia/Hypoplasia of the tongue (HP:0010295)1.83048672
136Abnormality of urine glucose concentration (HP:0011016)1.82934470
137Glycosuria (HP:0003076)1.82934470
138Abnormality of vitamin metabolism (HP:0100508)1.82761845
139Menorrhagia (HP:0000132)1.82135869
140Hemorrhage of the eye (HP:0011885)1.81079296
141Supernumerary spleens (HP:0009799)1.80895232
142Ectopic kidney (HP:0000086)1.80891219
143Chronic hepatic failure (HP:0100626)1.80120063
144Confusion (HP:0001289)1.80022518
145Aplasia/Hypoplasia of the patella (HP:0006498)1.79392450
146Abnormality of transition element cation homeostasis (HP:0011030)1.79034160
147Congenital primary aphakia (HP:0007707)1.78971216
148Abnormal lung lobation (HP:0002101)1.78679800
149Abnormality of the renal medulla (HP:0100957)1.77131209
150Cerebellar dysplasia (HP:0007033)1.77107668
151Recurrent gram-negative bacterial infections (HP:0005420)1.76781890
152Absent septum pellucidum (HP:0001331)1.76544315
153Congenital, generalized hypertrichosis (HP:0004540)1.76095347
154Intestinal atresia (HP:0011100)1.75792631
155Broad foot (HP:0001769)1.75378476
156Abnormality of alkaline phosphatase activity (HP:0004379)1.75026702
157Chromsome breakage (HP:0040012)1.73920005
158Occipital encephalocele (HP:0002085)1.71580934
159Type II lissencephaly (HP:0007260)1.71394546
160Postaxial foot polydactyly (HP:0001830)1.70219286
161Maternal diabetes (HP:0009800)1.69987572
162Chromosomal breakage induced by crosslinking agents (HP:0003221)1.68418606
163Dandy-Walker malformation (HP:0001305)1.67664122
164Stenosis of the external auditory canal (HP:0000402)1.67257311
165Duplication of thumb phalanx (HP:0009942)1.66751387
166Abnormality of alanine metabolism (HP:0010916)1.66572405
167Hyperalaninemia (HP:0003348)1.66572405
168Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.66572405
169Short hallux (HP:0010109)1.66303918
170Hepatoblastoma (HP:0002884)1.65751095
171Abnormality of the middle phalanges of the toes (HP:0010183)1.65709764
172Cutaneous syndactyly (HP:0012725)1.64116379
173Aplasia/Hypoplasia of the tibia (HP:0005772)1.62647970
174Abnormal number of erythroid precursors (HP:0012131)1.61847125
175Bile duct proliferation (HP:0001408)1.61640561
176Abnormal biliary tract physiology (HP:0012439)1.61640561
177Renal hypoplasia (HP:0000089)1.61637334
178Hypoplasia of the ulna (HP:0003022)1.61431986
179Aplasia/Hypoplasia of the hallux (HP:0008362)1.59634215
180Reticulocytopenia (HP:0001896)1.57755060
181Tubular atrophy (HP:0000092)1.55518984
182Oligodactyly (hands) (HP:0001180)1.54756118
183Aplasia/Hypoplasia of the ulna (HP:0006495)1.54612212
184Methylmalonic acidemia (HP:0002912)1.54043591
185Abnormal number of incisors (HP:0011064)1.53927282
186Postaxial hand polydactyly (HP:0001162)1.53664273
187Nephrogenic diabetes insipidus (HP:0009806)1.53583603
188Labial hypoplasia (HP:0000066)1.53442132
189Hypoplastic female external genitalia (HP:0012815)1.52924002
190Hypoplasia of the pons (HP:0012110)1.50413874
191Lissencephaly (HP:0001339)1.46533067
192Holoprosencephaly (HP:0001360)1.46037600

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK7.94116634
2ERN14.49666506
3SIK14.38672224
4FGFR43.85364559
5PKN22.78861110
6TRIB32.77538203
7MKNK22.57644816
8ERBB42.56213812
9CDC72.51443634
10BMPR1B2.35936185
11MKNK12.26865213
12INSRR2.24623294
13ZAK2.17042185
14PNCK2.16553036
15MAP2K42.16523549
16CASK2.15317882
17BUB12.10069936
18TAOK32.09765528
19LATS12.04087128
20VRK22.00639799
21TNIK1.96717986
22TTK1.85118440
23FLT31.83023863
24STK38L1.81088226
25PBK1.79962953
26MAPK111.79526244
27WEE11.79008659
28BRSK21.74967233
29PLK31.69537714
30MST1R1.63476340
31PTK61.61678409
32DYRK21.60922428
33PIK3CG1.50702280
34ACVR1B1.46656675
35SRPK11.45564908
36MARK11.44714597
37DAPK21.42554717
38NEK21.28866811
39ABL21.28668701
40VRK11.28094912
41TAF11.26379680
42NEK91.25814124
43PLK41.25760508
44FRK1.22176953
45PINK11.21816840
46WNK41.20589213
47TSSK61.20104863
48GRK11.19021689
49PLK11.18756926
50MAP3K71.17696334
51TGFBR11.15590919
52MAP4K21.13818980
53MAP3K101.13628495
54NUAK11.12772459
55RIPK11.09852006
56WNK31.09042939
57NEK11.08198351
58ERBB21.08041281
59TYK21.07364907
60FGFR21.04626246
61ADRBK21.04533463
62MET1.02943304
63PLK21.02556031
64BRSK11.01733231
65STK31.01591348
66STK390.99487098
67KDR0.99013761
68LATS20.98142179
69PDK40.96872860
70PDK30.96872860
71CHEK20.96076300
72JAK20.95837380
73PRKAA20.95481758
74NME10.93359636
75TRIM280.86903475
76MAP2K30.86304793
77NTRK20.86301393
78PTK20.85521076
79CDK60.84699155
80PRKCZ0.84367295
81STK160.83901970
82BCR0.83899563
83EPHA40.76882908
84GRK60.76821690
85PASK0.76420171
86ATR0.76091732
87TIE10.76075301
88MAPK120.76057252
89DYRK1B0.75798417
90MAP3K40.75615426
91MAP3K30.73632143
92NTRK10.73416487
93CSNK1G20.70961319
94CAMK1G0.70896329
95PDGFRA0.70184006
96MAPK40.69633108
97MAP2K60.67958070
98DYRK30.67380794
99PRKAA10.66451207
100CDK190.65919433
101CAMK1D0.65530995
102MAP3K110.65000321
103PRKACG0.64765386
104CSNK1A1L0.64702000
105TYRO30.62655178
106AURKB0.62462898
107GSK3A0.61979347
108SGK30.61195259
109PRKCE0.60944430
110CSNK1G30.59913286
111CSNK1E0.59320451
112MTOR0.59012486
113MAPK130.58664279
114MAPK150.57682094
115STK380.57464481
116TAOK20.56102389
117CAMK2G0.55252684
118MAP2K10.54924901
119ATM0.54428237
120ADRBK10.54396628
121OXSR10.54033008
122PHKG10.53357005
123PHKG20.53357005
124PDK20.53117701
125CDK40.51373365
126RET0.51130484
127MAP2K70.50816779
128JAK10.50755915
129SGK4940.49961983
130SGK2230.49961983
131TLK10.49683541
132CSNK1A10.49517046
133MAPKAPK50.48969374
134TBK10.48717521
135AURKA0.48488987
136TGFBR20.48418217
137CDK30.48369360
138DYRK1A0.48308855
139UHMK10.47958251
140PDPK10.47943807
141BMX0.47739393
142MAP2K20.47670875
143ICK0.44723297
144FGFR10.43759668
145MAPK70.43741075
146FER0.43543702
147PRKDC0.42375692
148NTRK30.42320530
149CDK10.41927609
150SGK20.40289728
151PRKCG0.39700252
152CHEK10.39397996
153PRKCI0.37788261
154CAMK2A0.37742222
155IGF1R0.35907627
156EPHB10.35688454
157MAP3K50.35378023
158PAK30.35347920
159MAP3K20.34004156
160MAP3K60.30166109
161EPHA20.29993483
162AKT20.29853078
163LRRK20.29642796
164IRAK30.27908238
165CSK0.27605039
166AKT30.26925546
167CSNK1G10.26853769
168CAMK40.26625689
169KSR20.26052831
170EGFR0.25820601
171PDK10.25629992
172EPHB20.24241229
173PAK20.23991242

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.35620877
2Nitrogen metabolism_Homo sapiens_hsa009103.76224358
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.39280417
4* Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.17155990
5Arginine biosynthesis_Homo sapiens_hsa002203.07533789
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.81799392
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.62407226
8* Tryptophan metabolism_Homo sapiens_hsa003802.61644163
9* Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.56479612
10Complement and coagulation cascades_Homo sapiens_hsa046102.52017762
11* Fatty acid degradation_Homo sapiens_hsa000712.49891592
12* Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.49726148
13Pentose and glucuronate interconversions_Homo sapiens_hsa000402.26340950
14Butanoate metabolism_Homo sapiens_hsa006502.25982328
15Propanoate metabolism_Homo sapiens_hsa006402.18084351
16Peroxisome_Homo sapiens_hsa041462.11616400
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.02858072
18Fatty acid metabolism_Homo sapiens_hsa012121.89082368
19Chemical carcinogenesis_Homo sapiens_hsa052041.84827043
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.84811937
21Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.84653429
22PPAR signaling pathway_Homo sapiens_hsa033201.84633573
23Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.82128940
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.79417993
25Homologous recombination_Homo sapiens_hsa034401.75266756
26RNA polymerase_Homo sapiens_hsa030201.68326695
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.67296641
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.64936785
29Selenocompound metabolism_Homo sapiens_hsa004501.64248472
30Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.63947980
31Mismatch repair_Homo sapiens_hsa034301.63075218
32Caffeine metabolism_Homo sapiens_hsa002321.62631605
33Retinol metabolism_Homo sapiens_hsa008301.59218033
34* beta-Alanine metabolism_Homo sapiens_hsa004101.59115076
35* Histidine metabolism_Homo sapiens_hsa003401.55752119
36Bile secretion_Homo sapiens_hsa049761.53417632
37Protein export_Homo sapiens_hsa030601.51656405
38Phenylalanine metabolism_Homo sapiens_hsa003601.51177607
39Basal cell carcinoma_Homo sapiens_hsa052171.49116790
40Ribosome_Homo sapiens_hsa030101.45342890
41DNA replication_Homo sapiens_hsa030301.44794428
42Staphylococcus aureus infection_Homo sapiens_hsa051501.43594527
43Cysteine and methionine metabolism_Homo sapiens_hsa002701.42142745
44Fanconi anemia pathway_Homo sapiens_hsa034601.42075632
45* Pyruvate metabolism_Homo sapiens_hsa006201.41382858
46Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.37025935
47Basal transcription factors_Homo sapiens_hsa030221.36234124
48Oxidative phosphorylation_Homo sapiens_hsa001901.35993409
49Tyrosine metabolism_Homo sapiens_hsa003501.35582185
50Sulfur metabolism_Homo sapiens_hsa009201.34748969
51Cyanoamino acid metabolism_Homo sapiens_hsa004601.34686540
52* Biosynthesis of amino acids_Homo sapiens_hsa012301.31918539
53Non-homologous end-joining_Homo sapiens_hsa034501.30736382
54Carbon metabolism_Homo sapiens_hsa012001.30456595
55Folate biosynthesis_Homo sapiens_hsa007901.30337327
56Starch and sucrose metabolism_Homo sapiens_hsa005001.28995280
57Fat digestion and absorption_Homo sapiens_hsa049751.23275248
58Parkinsons disease_Homo sapiens_hsa050121.18864842
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.18630249
60Fatty acid elongation_Homo sapiens_hsa000621.18567454
61Nicotine addiction_Homo sapiens_hsa050331.17569084
62Nucleotide excision repair_Homo sapiens_hsa034201.15356223
63Hedgehog signaling pathway_Homo sapiens_hsa043401.15283589
64Steroid biosynthesis_Homo sapiens_hsa001001.13971191
65Hippo signaling pathway_Homo sapiens_hsa043901.13373946
66Phototransduction_Homo sapiens_hsa047441.12479496
67Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.09011912
68Huntingtons disease_Homo sapiens_hsa050161.07595191
69Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.06965511
70ABC transporters_Homo sapiens_hsa020101.05046729
71Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.02584001
72Maturity onset diabetes of the young_Homo sapiens_hsa049501.01063246
73Base excision repair_Homo sapiens_hsa034101.00906781
74Sulfur relay system_Homo sapiens_hsa041221.00352926
75* Arginine and proline metabolism_Homo sapiens_hsa003300.98291842
76Vitamin digestion and absorption_Homo sapiens_hsa049770.95553854
77Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.95399393
78RNA degradation_Homo sapiens_hsa030180.94645269
79One carbon pool by folate_Homo sapiens_hsa006700.93040450
80Spliceosome_Homo sapiens_hsa030400.91612549
81RNA transport_Homo sapiens_hsa030130.90365267
82Vitamin B6 metabolism_Homo sapiens_hsa007500.88998866
83Cell cycle_Homo sapiens_hsa041100.88662303
84Cardiac muscle contraction_Homo sapiens_hsa042600.85781784
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.84141090
86Proteasome_Homo sapiens_hsa030500.83949751
87Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.80971856
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.79397531
89* Lysine degradation_Homo sapiens_hsa003100.77209891
90Glutathione metabolism_Homo sapiens_hsa004800.76703378
91* Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.76290965
92Pyrimidine metabolism_Homo sapiens_hsa002400.75588977
93Alzheimers disease_Homo sapiens_hsa050100.72307415
94Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.69980300
95Purine metabolism_Homo sapiens_hsa002300.69136675
96Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.69108788
97* Glycerolipid metabolism_Homo sapiens_hsa005610.67128569
98TGF-beta signaling pathway_Homo sapiens_hsa043500.66787957
99Taste transduction_Homo sapiens_hsa047420.66060420
100Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.61979888
101Fatty acid biosynthesis_Homo sapiens_hsa000610.61119588
102Wnt signaling pathway_Homo sapiens_hsa043100.60000486
103Pentose phosphate pathway_Homo sapiens_hsa000300.58847281
104Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53106352
105Axon guidance_Homo sapiens_hsa043600.53072562
106Glutamatergic synapse_Homo sapiens_hsa047240.50469556
107Tight junction_Homo sapiens_hsa045300.49999313
108* Metabolic pathways_Homo sapiens_hsa011000.47620408
109Fructose and mannose metabolism_Homo sapiens_hsa000510.36018832
110Prion diseases_Homo sapiens_hsa050200.34787238
111Galactose metabolism_Homo sapiens_hsa000520.31781879
112Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.25977364
113alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25118001
114Insulin resistance_Homo sapiens_hsa049310.22893047
115Adipocytokine signaling pathway_Homo sapiens_hsa049200.21933105
116Linoleic acid metabolism_Homo sapiens_hsa005910.17743925
117Glucagon signaling pathway_Homo sapiens_hsa049220.13286207
118Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.11746796
119Glycerophospholipid metabolism_Homo sapiens_hsa005640.10928011
120AMPK signaling pathway_Homo sapiens_hsa041520.06313676
121Protein digestion and absorption_Homo sapiens_hsa049740.02911740
122Mineral absorption_Homo sapiens_hsa04978-0.2250760
123Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2210130
124Systemic lupus erythematosus_Homo sapiens_hsa05322-0.2056890
125Hepatitis C_Homo sapiens_hsa05160-0.2046888
126Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.2043369
127Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1982728
128Regulation of autophagy_Homo sapiens_hsa04140-0.1978164
129Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1724717
130Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1520848
131Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1477893
132Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1160765
133Bladder cancer_Homo sapiens_hsa05219-0.1136538
134Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1004971
135Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0958429
136Renin-angiotensin system_Homo sapiens_hsa04614-0.0895766
137Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.0890797
138Insulin signaling pathway_Homo sapiens_hsa04910-0.0782852
139Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0489773
140Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0481788
141Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0283724

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