ABCD4

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 the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ALD subfamily, which is involved in peroxisomal import of fatty acids and/or fatty acyl-CoAs in the organelle. All known peroxisomal ABC transporters are half transporters which require a partner half transporter molecule to form a functional homodimeric or heterodimeric transporter. The function of this peroxisomal membrane protein is unknown. However, it is speculated that it may function as a heterodimer for another peroxisomal ABC transporter and, therefore, may modify the adrenoleukodystrophy phenotype. It may also play a role in the process of peroxisome biogenesis. Alternative splicing results in at least two different transcript variants, one which is protein-coding and one which is probably not protein-coding. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fatty acid elongation (GO:0030497)5.06296794
2ribosomal small subunit biogenesis (GO:0042274)4.84450826
3behavioral response to nicotine (GO:0035095)4.78917876
4central nervous system myelination (GO:0022010)4.48080744
5axon ensheathment in central nervous system (GO:0032291)4.48080744
6pyrimidine nucleobase catabolic process (GO:0006208)4.10481903
7protein polyglutamylation (GO:0018095)4.04573889
8cholesterol biosynthetic process (GO:0006695)3.82516631
9phosphatidylserine acyl-chain remodeling (GO:0036150)3.72883937
10keratinocyte development (GO:0003334)3.72474941
11positive regulation of cellular amine metabolic process (GO:0033240)3.71159857
12water-soluble vitamin biosynthetic process (GO:0042364)3.66557750
13negative regulation of telomere maintenance (GO:0032205)3.63736981
14somite development (GO:0061053)3.56466364
15pyrimidine-containing compound transmembrane transport (GO:0072531)3.56150907
16preassembly of GPI anchor in ER membrane (GO:0016254)3.52420151
17regulation of cilium movement (GO:0003352)3.51506281
18GPI anchor biosynthetic process (GO:0006506)3.50539720
19respiratory chain complex IV assembly (GO:0008535)3.45003422
20sterol biosynthetic process (GO:0016126)3.42252329
21sphingoid metabolic process (GO:0046519)3.38172939
22nucleobase catabolic process (GO:0046113)3.36874326
23gamma-aminobutyric acid transport (GO:0015812)3.36571365
24indolalkylamine metabolic process (GO:0006586)3.35313410
25RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.34161188
26tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.34161188
27isoprenoid biosynthetic process (GO:0008299)3.33673797
28protein complex biogenesis (GO:0070271)3.32989860
29nucleotide transmembrane transport (GO:1901679)3.32002052
30piRNA metabolic process (GO:0034587)3.27800930
31long-chain fatty acid biosynthetic process (GO:0042759)3.27063052
32glutathione biosynthetic process (GO:0006750)3.26534743
33regulation of posttranscriptional gene silencing (GO:0060147)3.22876477
34regulation of gene silencing by miRNA (GO:0060964)3.22876477
35regulation of gene silencing by RNA (GO:0060966)3.22876477
36mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.22143681
37mitochondrial respiratory chain complex I assembly (GO:0032981)3.22143681
38NADH dehydrogenase complex assembly (GO:0010257)3.22143681
39nonribosomal peptide biosynthetic process (GO:0019184)3.22058484
40fucose catabolic process (GO:0019317)3.19937874
41L-fucose metabolic process (GO:0042354)3.19937874
42L-fucose catabolic process (GO:0042355)3.19937874
43response to pheromone (GO:0019236)3.18131118
44axoneme assembly (GO:0035082)3.15799843
45GPI anchor metabolic process (GO:0006505)3.15712639
46diol metabolic process (GO:0034311)3.15592102
47transmission of nerve impulse (GO:0019226)3.13761161
48tryptophan metabolic process (GO:0006568)3.12770014
49DNA deamination (GO:0045006)3.11729813
50cell proliferation in forebrain (GO:0021846)3.11729227
51phosphatidylethanolamine acyl-chain remodeling (GO:0036152)3.10187215
52nonmotile primary cilium assembly (GO:0035058)3.09376683
53negative regulation of transcription regulatory region DNA binding (GO:2000678)3.08635769
54intraciliary transport (GO:0042073)3.06409710
55mitochondrial respiratory chain complex assembly (GO:0033108)3.05429512
56ribosomal small subunit assembly (GO:0000028)3.05382519
57kynurenine metabolic process (GO:0070189)3.02856737
58epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.01734335
59DNA integration (GO:0015074)3.00852786
60primary alcohol catabolic process (GO:0034310)3.00251459
61postsynaptic membrane organization (GO:0001941)2.99954420
62epithelial cilium movement (GO:0003351)2.95632066
63neural tube formation (GO:0001841)2.94291472
64viral transcription (GO:0019083)2.91485099
65limb bud formation (GO:0060174)2.91201102
66mannosylation (GO:0097502)2.89398719
67regulation of microtubule-based movement (GO:0060632)2.89335350
68low-density lipoprotein particle remodeling (GO:0034374)2.88334540
69serine family amino acid catabolic process (GO:0009071)2.87571327
70very long-chain fatty acid metabolic process (GO:0000038)2.87411291
71replication fork processing (GO:0031297)2.86258900
72ribosomal large subunit biogenesis (GO:0042273)2.85003233
73presynaptic membrane assembly (GO:0097105)2.83693204
74negative regulation of translation, ncRNA-mediated (GO:0040033)2.83048101
75regulation of translation, ncRNA-mediated (GO:0045974)2.83048101
76negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.83048101
77desmosome organization (GO:0002934)2.81825824
78phosphatidylinositol acyl-chain remodeling (GO:0036149)2.80213229
79peptide biosynthetic process (GO:0043043)2.80008544
80DNA methylation involved in gamete generation (GO:0043046)2.79784723
81ubiquinone biosynthetic process (GO:0006744)2.79364930
82ubiquinone metabolic process (GO:0006743)2.78987448
83calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.78987210
84response to misfolded protein (GO:0051788)2.77759068
85cilium morphogenesis (GO:0060271)2.76676039
86kidney morphogenesis (GO:0060993)2.74541564
87positive regulation of gastrulation (GO:2000543)2.74336062
88translational termination (GO:0006415)2.72899712
89heme transport (GO:0015886)2.72644645
90regulation of telomere maintenance (GO:0032204)2.72444614
91very-low-density lipoprotein particle assembly (GO:0034379)2.71000445
92phosphatidylcholine acyl-chain remodeling (GO:0036151)2.70291607
93sulfation (GO:0051923)2.68989370
94regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.68590689
95proteasome assembly (GO:0043248)2.67783608
96L-serine metabolic process (GO:0006563)2.66904187
97spinal cord development (GO:0021510)2.66392990
98head development (GO:0060322)2.65018799
99GDP-mannose metabolic process (GO:0019673)2.64421668
100glyoxylate metabolic process (GO:0046487)2.64039670
101neuronal action potential propagation (GO:0019227)2.63806590
102cell differentiation in spinal cord (GO:0021515)2.63724351
103establishment of skin barrier (GO:0061436)2.62978761
104presynaptic membrane organization (GO:0097090)2.61916016
105spinal cord motor neuron differentiation (GO:0021522)2.61864718
106response to lipoprotein particle (GO:0055094)2.61586436
107seminiferous tubule development (GO:0072520)2.59805934
108ethanol metabolic process (GO:0006067)2.59251703
109oxidative demethylation (GO:0070989)2.59047353
110detection of light stimulus involved in visual perception (GO:0050908)2.58009567
111detection of light stimulus involved in sensory perception (GO:0050962)2.58009567
112reciprocal meiotic recombination (GO:0007131)2.56810437
113reciprocal DNA recombination (GO:0035825)2.56810437
114cell fate commitment involved in formation of primary germ layer (GO:0060795)2.56727451
115C-terminal protein lipidation (GO:0006501)2.56267861
116regulation of collateral sprouting (GO:0048670)2.55683227
117retinal cone cell development (GO:0046549)2.55122460
118otic vesicle formation (GO:0030916)2.54898001
119synaptic transmission, cholinergic (GO:0007271)2.54587079
120negative regulation of gene silencing (GO:0060969)2.54340171
121pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.54142824
122indole-containing compound metabolic process (GO:0042430)2.53449887
123glutathione derivative metabolic process (GO:1901685)2.52694788
124glutathione derivative biosynthetic process (GO:1901687)2.52694788
125phosphatidylserine metabolic process (GO:0006658)2.51527557
126resolution of meiotic recombination intermediates (GO:0000712)2.51373552
127S-adenosylmethionine metabolic process (GO:0046500)2.51261615
128branched-chain amino acid catabolic process (GO:0009083)2.50387175
129cellular biogenic amine catabolic process (GO:0042402)2.49314744
130amine catabolic process (GO:0009310)2.49314744
131G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.48723428
132short-term memory (GO:0007614)2.48339369
133axon ensheathment (GO:0008366)2.48117540
134ensheathment of neurons (GO:0007272)2.48117540
135cilium organization (GO:0044782)2.46647812
136nucleotide transport (GO:0006862)2.46609231
137myelination (GO:0042552)2.46570055
138synapsis (GO:0007129)2.46019498
139positive regulation of fatty acid transport (GO:2000193)2.45540694
140mitotic cell cycle arrest (GO:0071850)2.44402850
141pentose metabolic process (GO:0019321)2.43932745
142regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.43616949
143iron-sulfur cluster assembly (GO:0016226)2.43339917
144metallo-sulfur cluster assembly (GO:0031163)2.43339917
145quinone biosynthetic process (GO:1901663)2.43265028
146cilium movement (GO:0003341)2.43125248
147endoderm formation (GO:0001706)2.42132307
148cytochrome complex assembly (GO:0017004)2.41021086
149negative regulation of execution phase of apoptosis (GO:1900118)2.40030635
150regulation of histone H3-K27 methylation (GO:0061085)2.39742198
151transcription from RNA polymerase I promoter (GO:0006360)2.39281681
152negative regulation of keratinocyte proliferation (GO:0010839)2.39015864
153regulation of guanylate cyclase activity (GO:0031282)2.37548629
154flavonoid metabolic process (GO:0009812)2.36472940
155amyloid precursor protein catabolic process (GO:0042987)2.36165594
156termination of RNA polymerase I transcription (GO:0006363)2.36010934
157amyloid precursor protein metabolic process (GO:0042982)2.35125455
158biotin metabolic process (GO:0006768)2.34823696
159folic acid metabolic process (GO:0046655)2.34516393
160phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.34099292
161base-excision repair, AP site formation (GO:0006285)2.33604339
162aldehyde catabolic process (GO:0046185)2.33213137
163regulation of cholesterol esterification (GO:0010872)2.32395069
164regulation of pseudopodium assembly (GO:0031272)2.31037003
165positive regulation of pseudopodium assembly (GO:0031274)2.30074431
166glycerophospholipid catabolic process (GO:0046475)2.27540391
167gap junction assembly (GO:0016264)2.27387427
168viral life cycle (GO:0019058)2.27342104
169NAD biosynthetic process (GO:0009435)2.27307353
170ribonucleoprotein complex biogenesis (GO:0022613)2.26631703
171negative regulation of chemokine production (GO:0032682)2.25798162
172glutathione metabolic process (GO:0006749)2.25518735
173sphingosine metabolic process (GO:0006670)2.24608972
174purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.24329303
1753-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.24329303
176regulation of somitogenesis (GO:0014807)2.24075821
177regulation of mesoderm development (GO:2000380)2.23419716
178histone H2B ubiquitination (GO:0033523)2.23321455
179sulfate transport (GO:0008272)2.23276809
180regulation of water loss via skin (GO:0033561)2.23238637
181platelet dense granule organization (GO:0060155)2.22899622
182transcription initiation from RNA polymerase I promoter (GO:0006361)2.22776632
183cerebral cortex radially oriented cell migration (GO:0021799)2.22425392
184indole-containing compound catabolic process (GO:0042436)2.22389067
185indolalkylamine catabolic process (GO:0046218)2.22389067
186tryptophan catabolic process (GO:0006569)2.22389067

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human6.12538462
2EZH2_22144423_ChIP-Seq_EOC_Human5.47311119
3SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.54615900
4ZNF274_21170338_ChIP-Seq_K562_Hela4.06347788
5GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.53689941
6CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human3.51733332
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.93389313
8TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.85875491
9EGR1_23403033_ChIP-Seq_LIVER_Mouse2.84442015
10KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.82528462
11KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.82528462
12KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.82528462
13PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.82100034
14STAT6_21828071_ChIP-Seq_BEAS2B_Human2.80297085
15GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.60312236
16NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.48227833
17ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.38211255
18E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.30796065
19NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.21945724
20* VDR_22108803_ChIP-Seq_LS180_Human2.19739329
21POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.15570261
22JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.07740186
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.04464282
24* TCF3_18692474_ChIP-Seq_MEFs_Mouse2.03376709
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.02534492
26POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.01369275
27NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.99850649
28CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.99693121
29STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.93689194
30NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.91383817
31ELF1_17652178_ChIP-ChIP_JURKAT_Human1.90493346
32CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.90050849
33MYC_18940864_ChIP-ChIP_HL60_Human1.85969622
34IGF1R_20145208_ChIP-Seq_DFB_Human1.83833649
35SRY_22984422_ChIP-ChIP_TESTIS_Rat1.83608887
36CDX2_20551321_ChIP-Seq_CACO-2_Human1.83163899
37* SRF_21415370_ChIP-Seq_HL-1_Mouse1.82786089
38NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.81998971
39SALL1_21062744_ChIP-ChIP_HESCs_Human1.80583346
40SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.79626026
41NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.75864401
42* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.71837438
43MYC_18555785_ChIP-Seq_MESCs_Mouse1.70944578
44GBX2_23144817_ChIP-Seq_PC3_Human1.66664120
45* TCF3_18692474_ChIP-Seq_MESCs_Mouse1.65190834
46CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.65067651
47MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.64658778
48CTBP2_25329375_ChIP-Seq_LNCAP_Human1.61859124
49* NANOG_18555785_ChIP-Seq_MESCs_Mouse1.61433587
50MYC_18358816_ChIP-ChIP_MESCs_Mouse1.60338991
51KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.59746193
52EST1_17652178_ChIP-ChIP_JURKAT_Human1.59521389
53* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.58965233
54* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.58721403
55REST_21632747_ChIP-Seq_MESCs_Mouse1.58215435
56E2F1_18555785_ChIP-Seq_MESCs_Mouse1.57930338
57EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.55283745
58TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.55246261
59POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.55246261
60CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.54920152
61ZFP57_27257070_Chip-Seq_ESCs_Mouse1.54022297
62* SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.53831908
63IRF1_19129219_ChIP-ChIP_H3396_Human1.52055827
64PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.51990888
65CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.49113958
66RXR_22158963_ChIP-Seq_LIVER_Mouse1.49036131
67P63_26484246_Chip-Seq_KERATINOCYTES_Human1.47848339
68MYC_19079543_ChIP-ChIP_MESCs_Mouse1.47067581
69GABP_17652178_ChIP-ChIP_JURKAT_Human1.46959298
70P300_19829295_ChIP-Seq_ESCs_Human1.46435261
71ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.46127310
72ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.45116995
73SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.44948652
74ETS1_20019798_ChIP-Seq_JURKAT_Human1.42112315
75SOX2_18692474_ChIP-Seq_MEFs_Mouse1.42007703
76GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.38834098
77BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.38559175
78BMI1_23680149_ChIP-Seq_NPCS_Mouse1.38002601
79YY1_21170310_ChIP-Seq_MESCs_Mouse1.37632975
80SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.36811902
81TP53_22573176_ChIP-Seq_HFKS_Human1.35284460
82REST_18959480_ChIP-ChIP_MESCs_Mouse1.34438738
83MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.34359634
84* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.33759758
85CBX2_27304074_Chip-Seq_ESCs_Mouse1.31925844
86ERA_21632823_ChIP-Seq_H3396_Human1.31814222
87EWS_26573619_Chip-Seq_HEK293_Human1.30276313
88KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.27838062
89ETV2_25802403_ChIP-Seq_MESCs_Mouse1.27752649
90RNF2_27304074_Chip-Seq_NSC_Mouse1.26068051
91RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.23464141
92FUS_26573619_Chip-Seq_HEK293_Human1.22830270
93TP63_19390658_ChIP-ChIP_HaCaT_Human1.22245365
94SOX2_16153702_ChIP-ChIP_HESCs_Human1.21663791
95CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.20859114
96GATA3_21878914_ChIP-Seq_MCF-7_Human1.20037157
97BCAT_22108803_ChIP-Seq_LS180_Human1.19167522
98FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.17796440
99* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.16905961
100CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.15791176
101NCOR_22424771_ChIP-Seq_293T_Human1.15092531
102MYC_19030024_ChIP-ChIP_MESCs_Mouse1.11693669
103* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.11644326
104POU5F1_16153702_ChIP-ChIP_HESCs_Human1.11601877
105GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.09481296
106IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.07999742
107CBP_20019798_ChIP-Seq_JUKART_Human1.07999742
108SOX2_19829295_ChIP-Seq_ESCs_Human1.07790076
109NANOG_19829295_ChIP-Seq_ESCs_Human1.07790076
110UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.07596094
111DROSHA_22980978_ChIP-Seq_HELA_Human1.06827763
112FLI1_27457419_Chip-Seq_LIVER_Mouse1.06781920
113CREB1_15753290_ChIP-ChIP_HEK293T_Human1.05543136
114KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05490280
115* POU5F1_16518401_ChIP-PET_MESCs_Mouse1.05365175
116* MYC_19829295_ChIP-Seq_ESCs_Human1.04071957
117* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.01894253
118HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.00945749
119STAT3_1855785_ChIP-Seq_MESCs_Mouse1.00196016
120EZH2_27304074_Chip-Seq_ESCs_Mouse1.00157259
121SOX17_20123909_ChIP-Seq_XEN_Mouse1.00057983
122* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.99942921
123SOX2_18692474_ChIP-Seq_MESCs_Mouse0.99325971
124FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.98224724
125TCF4_22108803_ChIP-Seq_LS180_Human0.97913812
126NOTCH1_21737748_ChIP-Seq_TLL_Human0.97813761
127FOXA1_27270436_Chip-Seq_PROSTATE_Human0.97091670
128FOXA1_25329375_ChIP-Seq_VCAP_Human0.97091670
129PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.96780385
130PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.96403953
131EZH2_27294783_Chip-Seq_ESCs_Mouse0.96375734
132SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.96362413
133TRIM28_21343339_ChIP-Seq_HEK293_Human0.95658621
134AR_25329375_ChIP-Seq_VCAP_Human0.95541901
135RUNX2_22187159_ChIP-Seq_PCA_Human0.95341708
136FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.95298442
137TAF2_19829295_ChIP-Seq_ESCs_Human0.95270684
138VDR_23849224_ChIP-Seq_CD4+_Human0.92555651
139* POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.92370715
140SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.92278559
141ESR1_21235772_ChIP-Seq_MCF-7_Human0.91931115
142FOXP3_21729870_ChIP-Seq_TREG_Human0.91786336
143* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.91623847
144* SA1_27219007_Chip-Seq_Bcells_Human0.91492389
145* CTCF_20526341_ChIP-Seq_ESCs_Human0.91384221
146LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.91249429
147STAT1_20625510_ChIP-Seq_HELA_Human0.91043152
148* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.90771985
149TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.90709618
150CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.90243154
151EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.90172246
152FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90046316
153CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.89901829
154* FOXH1_21741376_ChIP-Seq_ESCs_Human0.89709091
155IRF8_22096565_ChIP-ChIP_GC-B_Human0.88745349
156WDR5_24793694_ChIP-Seq_LNCAP_Human0.88604228
157KAP1_22055183_ChIP-Seq_ESCs_Mouse0.88408810
158* HOXB7_26014856_ChIP-Seq_BT474_Human0.88102262
159* FOXH1_21741376_ChIP-Seq_EPCs_Human0.88093140
160TCF4_23295773_ChIP-Seq_U87_Human0.87934460
161POU3F2_20337985_ChIP-ChIP_501MEL_Human0.87113983
162ER_23166858_ChIP-Seq_MCF-7_Human0.87020665
163SMAD3_21741376_ChIP-Seq_ESCs_Human0.86993200
164GABP_19822575_ChIP-Seq_HepG2_Human0.86598336
165OCT4_20526341_ChIP-Seq_ESCs_Human0.86090433
166SMAD4_21741376_ChIP-Seq_EPCs_Human0.85911182
167* STAT3_23295773_ChIP-Seq_U87_Human0.85807782
168NANOG_20526341_ChIP-Seq_ESCs_Human0.85265779
169YY1_22570637_ChIP-Seq_MALME-3M_Human0.83979350
170ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.83107334
171KAP1_27257070_Chip-Seq_ESCs_Mouse0.81886685
172EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.78918620
173SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.78855498
174LXR_22158963_ChIP-Seq_LIVER_Mouse0.78684445
175PHF8_20622853_ChIP-Seq_HELA_Human0.78238974
176SOX2_18555785_ChIP-Seq_MESCs_Mouse0.78199888
177PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.77767076
178GATA6_21074721_ChIP-Seq_CACO-2_Human0.77711629

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.71608610
2MP0003806_abnormal_nucleotide_metabolis3.62916041
3MP0004381_abnormal_hair_follicle3.28332351
4MP0005451_abnormal_body_composition3.24701672
5MP0003011_delayed_dark_adaptation3.07712964
6MP0008877_abnormal_DNA_methylation3.03080025
7MP0009840_abnormal_foam_cell3.02296635
8MP0000566_synostosis2.67022688
9MP0004019_abnormal_vitamin_homeostasis2.66851059
10MP0000383_abnormal_hair_follicle2.58441654
11MP0003122_maternal_imprinting2.57329358
12MP0002653_abnormal_ependyma_morphology2.57001133
13MP0003880_abnormal_central_pattern2.56520982
14MP0009379_abnormal_foot_pigmentation2.31081898
15MP0002277_abnormal_respiratory_mucosa2.26932697
16MP0003950_abnormal_plasma_membrane2.25585693
17MP0003941_abnormal_skin_development2.24699153
18MP0002132_abnormal_respiratory_system2.09039638
19MP0003787_abnormal_imprinting2.03766153
20MP0002796_impaired_skin_barrier2.03308914
21MP0003718_maternal_effect2.00309547
22MP0003878_abnormal_ear_physiology2.00158569
23MP0005377_hearing/vestibular/ear_phenot2.00158569
24MP0002102_abnormal_ear_morphology1.95696662
25MP0005360_urolithiasis1.93697926
26MP0003195_calcinosis1.93460312
27MP0003121_genomic_imprinting1.92226703
28MP0003186_abnormal_redox_activity1.91894795
29MP0003693_abnormal_embryo_hatching1.86652767
30MP0005551_abnormal_eye_electrophysiolog1.85976327
31MP0003646_muscle_fatigue1.85398014
32MP0005171_absent_coat_pigmentation1.81302296
33MP0002254_reproductive_system_inflammat1.77613688
34MP0008789_abnormal_olfactory_epithelium1.77261356
35MP0001293_anophthalmia1.77177708
36MP0000920_abnormal_myelination1.72823439
37MP0004133_heterotaxia1.72394464
38MP0005394_taste/olfaction_phenotype1.72337100
39MP0005499_abnormal_olfactory_system1.72337100
40MP0006292_abnormal_olfactory_placode1.71335983
41MP0002638_abnormal_pupillary_reflex1.70951375
42MP0005670_abnormal_white_adipose1.68857857
43MP0001968_abnormal_touch/_nociception1.67429338
44MP0002139_abnormal_hepatobiliary_system1.65988095
45MP0003119_abnormal_digestive_system1.65639891
46MP0005075_abnormal_melanosome_morpholog1.64998711
47MP0003890_abnormal_embryonic-extraembry1.63834245
48MP0000778_abnormal_nervous_system1.62648307
49MP0003690_abnormal_glial_cell1.61443195
50MP0002138_abnormal_hepatobiliary_system1.61110790
51MP0005332_abnormal_amino_acid1.60319838
52MP0010030_abnormal_orbit_morphology1.60152445
53MP0004885_abnormal_endolymph1.59856833
54MP0001984_abnormal_olfaction1.59672413
55MP0005409_darkened_coat_color1.50304016
56MP0005646_abnormal_pituitary_gland1.50095625
57MP0001486_abnormal_startle_reflex1.45163135
58MP0002249_abnormal_larynx_morphology1.43870963
59MP0000049_abnormal_middle_ear1.43721337
60MP0002736_abnormal_nociception_after1.43687751
61MP0003191_abnormal_cellular_cholesterol1.42685507
62MP0006276_abnormal_autonomic_nervous1.42429485
63MP0005423_abnormal_somatic_nervous1.42250461
64MP0000490_abnormal_crypts_of1.41082676
65MP0010678_abnormal_skin_adnexa1.40676542
66MP0002060_abnormal_skin_morphology1.36674785
67MP0002009_preneoplasia1.36438516
68MP0002098_abnormal_vibrissa_morphology1.35666533
69MP0001986_abnormal_taste_sensitivity1.34539448
70MP0000631_abnormal_neuroendocrine_gland1.34379617
71MP0005501_abnormal_skin_physiology1.32508585
72MP0006072_abnormal_retinal_apoptosis1.31376930
73MP0002272_abnormal_nervous_system1.28765131
74MP0002837_dystrophic_cardiac_calcinosis1.26984701
75MP0001529_abnormal_vocalization1.26333051
76MP0008875_abnormal_xenobiotic_pharmacok1.26097682
77MP0000762_abnormal_tongue_morphology1.24791416
78MP0003453_abnormal_keratinocyte_physiol1.22568480
79MP0002557_abnormal_social/conspecific_i1.22028766
80MP0009697_abnormal_copulation1.21163143
81MP0009745_abnormal_behavioral_response1.20546331
82MP0004742_abnormal_vestibular_system1.20375894
83MP0003567_abnormal_fetal_cardiomyocyte1.17455386
84MP0008872_abnormal_physiological_respon1.17225589
85MP0001666_abnormal_nutrient_absorption1.16333273
86MP0001188_hyperpigmentation1.14882637
87MP0002733_abnormal_thermal_nociception1.14582776
88MP0000015_abnormal_ear_pigmentation1.11834748
89MP0000647_abnormal_sebaceous_gland1.11669609
90MP0005365_abnormal_bile_salt1.11454514
91MP0002572_abnormal_emotion/affect_behav1.11042696
92MP0003724_increased_susceptibility_to1.10358308
93MP0000467_abnormal_esophagus_morphology1.10194658
94MP0002751_abnormal_autonomic_nervous1.09044563
95MP0004957_abnormal_blastocyst_morpholog1.08224815
96MP0008995_early_reproductive_senescence1.08098037
97MP0008058_abnormal_DNA_repair1.07674730
98MP0005195_abnormal_posterior_eye1.07076789
99MP0002735_abnormal_chemical_nociception1.06048337
100MP0002752_abnormal_somatic_nervous1.05914566
101MP0002876_abnormal_thyroid_physiology1.05318557
102MP0005084_abnormal_gallbladder_morpholo1.04910875
103MP0004147_increased_porphyrin_level1.03774701
104MP0000470_abnormal_stomach_morphology1.03656812
105MP0005174_abnormal_tail_pigmentation1.02956406
106MP0001216_abnormal_epidermal_layer1.02867516
107MP0004043_abnormal_pH_regulation1.00166998
108MP0010155_abnormal_intestine_physiology0.99961114
109MP0001324_abnormal_eye_pigmentation0.99722123
110MP0005395_other_phenotype0.99605286
111MP0001963_abnormal_hearing_physiology0.98532578
112MP0002210_abnormal_sex_determination0.98527851
113MP0009046_muscle_twitch0.98469923
114MP0002064_seizures0.97633745
115MP0005085_abnormal_gallbladder_physiolo0.97535802
116MP0005058_abnormal_lysosome_morphology0.96341782
117MP0000678_abnormal_parathyroid_gland0.96002374
118MP0001485_abnormal_pinna_reflex0.95985363
119MP0002067_abnormal_sensory_capabilities0.95368616
120MP0001970_abnormal_pain_threshold0.94826643
121MP0003938_abnormal_ear_development0.94119521
122MP0006082_CNS_inflammation0.93518182
123MP0001929_abnormal_gametogenesis0.93462733
124MP0001501_abnormal_sleep_pattern0.92478185
125MP0002095_abnormal_skin_pigmentation0.92326095
126MP0003698_abnormal_male_reproductive0.92019175
127MP0004145_abnormal_muscle_electrophysio0.91406045
128MP0002928_abnormal_bile_duct0.89436071
129MP0002063_abnormal_learning/memory/cond0.88294139
130MP0001661_extended_life_span0.87958202
131MP0000477_abnormal_intestine_morphology0.87866349
132MP0008932_abnormal_embryonic_tissue0.86513848
133MP0005167_abnormal_blood-brain_barrier0.86198958
134MP0005025_abnormal_response_to0.84828455
135MP0003635_abnormal_synaptic_transmissio0.84147199
136MP0010771_integument_phenotype0.83830061
137MP0001764_abnormal_homeostasis0.83827128
138MP0000955_abnormal_spinal_cord0.83064283
139MP0004782_abnormal_surfactant_physiolog0.82963491
140MP0002295_abnormal_pulmonary_circulatio0.82750267
141MP0000653_abnormal_sex_gland0.81606828
142MP0002734_abnormal_mechanical_nocicepti0.81582544
143MP0001145_abnormal_male_reproductive0.80551885
144MP0005367_renal/urinary_system_phenotyp0.78282552
145MP0000516_abnormal_urinary_system0.78282552
146MP0002882_abnormal_neuron_morphology0.78218928
147MP0002938_white_spotting0.78081382
148MP0005645_abnormal_hypothalamus_physiol0.77613812
149MP0001849_ear_inflammation0.77600687
150MP0002152_abnormal_brain_morphology0.77142531
151MP0003937_abnormal_limbs/digits/tail_de0.76808253
152MP0001286_abnormal_eye_development0.76773419
153MP0001905_abnormal_dopamine_level0.76257830
154MP0009643_abnormal_urine_homeostasis0.76167595
155MP0009384_cardiac_valve_regurgitation0.75033662
156MP0008260_abnormal_autophagy0.74019765
157MP0004142_abnormal_muscle_tone0.73732343
158MP0005387_immune_system_phenotype0.68178286
159MP0001790_abnormal_immune_system0.68178286
160MP0000026_abnormal_inner_ear0.65269179
161MP0002419_abnormal_innate_immunity0.64779268
162MP0001191_abnormal_skin_condition0.64244722
163MP0000579_abnormal_nail_morphology0.63770799
164MP0004264_abnormal_extraembryonic_tissu0.62943513
165MP0002118_abnormal_lipid_homeostasis0.62636038
166MP0005083_abnormal_biliary_tract0.61138117
167MP0001243_abnormal_dermal_layer0.60891341
168MP0005253_abnormal_eye_physiology0.60287378
169MP0002136_abnormal_kidney_physiology0.59071611
170MP0003111_abnormal_nucleus_morphology0.58969166
171MP0002148_abnormal_hypersensitivity_rea0.58517201
172MP0000372_irregular_coat_pigmentation0.57456790

Predicted human phenotypes

RankGene SetZ-score
1Parakeratosis (HP:0001036)4.63190423
2Pancreatic cysts (HP:0001737)3.77190226
3Pancreatic fibrosis (HP:0100732)3.64799586
4True hermaphroditism (HP:0010459)3.64621102
5Abnormality of midbrain morphology (HP:0002418)3.56385683
6Molar tooth sign on MRI (HP:0002419)3.56385683
7Nephronophthisis (HP:0000090)3.41006581
8Renal Fanconi syndrome (HP:0001994)3.20508272
9Duplicated collecting system (HP:0000081)3.14315323
10Renal cortical cysts (HP:0000803)3.13760659
11Abnormality of secondary sexual hair (HP:0009888)3.12741374
12Abnormality of the axillary hair (HP:0100134)3.12741374
13Reticulocytopenia (HP:0001896)3.01840484
14Hyperglycinemia (HP:0002154)2.99978041
15Pendular nystagmus (HP:0012043)2.98629410
16Abnormality of renal resorption (HP:0011038)2.95835901
17Medial flaring of the eyebrow (HP:0010747)2.92883417
18Type I transferrin isoform profile (HP:0003642)2.88604108
19Colon cancer (HP:0003003)2.85149853
20Reduced antithrombin III activity (HP:0001976)2.83453271
21Cheilitis (HP:0100825)2.77934635
22Asplenia (HP:0001746)2.76297492
23Proximal tubulopathy (HP:0000114)2.75695324
24Abnormality of the labia minora (HP:0012880)2.75492107
25Generalized aminoaciduria (HP:0002909)2.74325206
26Abnormality of the renal medulla (HP:0100957)2.71102080
27Septo-optic dysplasia (HP:0100842)2.68919151
28Cystic liver disease (HP:0006706)2.65699741
29Chronic hepatic failure (HP:0100626)2.65596898
30Partial duplication of thumb phalanx (HP:0009944)2.63202042
31Macrocytic anemia (HP:0001972)2.59178455
32Gait imbalance (HP:0002141)2.58375557
33Intrahepatic cholestasis (HP:0001406)2.55886942
34Aplasia/Hypoplasia of the sacrum (HP:0008517)2.55605409
35Abolished electroretinogram (ERG) (HP:0000550)2.55291797
36Prolonged neonatal jaundice (HP:0006579)2.52214768
37Congenital primary aphakia (HP:0007707)2.50758357
38Hyperglycinuria (HP:0003108)2.49862934
39Aplasia/Hypoplasia of the spleen (HP:0010451)2.49288436
40Type II lissencephaly (HP:0007260)2.46524792
41Sclerocornea (HP:0000647)2.46255388
42Bile duct proliferation (HP:0001408)2.44343044
43Abnormal biliary tract physiology (HP:0012439)2.44343044
44Patchy hypopigmentation of hair (HP:0011365)2.40706054
45Hepatic necrosis (HP:0002605)2.40685166
46Congenital stationary night blindness (HP:0007642)2.39318274
47Vaginal atresia (HP:0000148)2.39002636
48Abnormality of the renal collecting system (HP:0004742)2.37561039
49Congenital ichthyosiform erythroderma (HP:0007431)2.34152333
50Nephrogenic diabetes insipidus (HP:0009806)2.34031717
51Genital tract atresia (HP:0001827)2.33372196
52Hepatocellular necrosis (HP:0001404)2.33360832
53Anophthalmia (HP:0000528)2.32643990
54Progressive cerebellar ataxia (HP:0002073)2.32043901
55Congenital hepatic fibrosis (HP:0002612)2.30855336
56Anencephaly (HP:0002323)2.29343491
57Pallor (HP:0000980)2.29116963
58Premature skin wrinkling (HP:0100678)2.28945648
59Aplasia of the musculature (HP:0100854)2.27391922
60Abnormality of cells of the erythroid lineage (HP:0012130)2.26285148
61Increased hepatocellular lipid droplets (HP:0006565)2.24889451
62Vascular calcification (HP:0004934)2.24472102
63Genetic anticipation (HP:0003743)2.24462104
64Amniotic constriction ring (HP:0009775)2.23662311
65Abnormality of placental membranes (HP:0011409)2.23662311
66Aplasia/Hypoplasia of the tibia (HP:0005772)2.22967981
67Pustule (HP:0200039)2.22188724
68Distal lower limb muscle weakness (HP:0009053)2.21911630
69Septate vagina (HP:0001153)2.20480779
70Hepatosplenomegaly (HP:0001433)2.20316971
71Duplication of thumb phalanx (HP:0009942)2.20046830
72Postaxial foot polydactyly (HP:0001830)2.16124355
73White forelock (HP:0002211)2.16005323
74Chromosomal breakage induced by crosslinking agents (HP:0003221)2.15350837
75Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)2.14800828
76Abnormality of glycine metabolism (HP:0010895)2.13085448
77Abnormality of serine family amino acid metabolism (HP:0010894)2.13085448
78Aplasia/Hypoplasia involving the musculature (HP:0001460)2.11841838
79Partial duplication of the phalanx of hand (HP:0009999)2.11603051
80Preaxial hand polydactyly (HP:0001177)2.11459450
81Breast hypoplasia (HP:0003187)2.11023582
82Sparse eyelashes (HP:0000653)2.10905920
83Aplasia/Hypoplasia of the tongue (HP:0010295)2.10758808
84Patellar aplasia (HP:0006443)2.07419855
85Rectal fistula (HP:0100590)2.06442491
86Rectovaginal fistula (HP:0000143)2.06442491
87Lissencephaly (HP:0001339)2.05994794
88Retinal dysplasia (HP:0007973)2.02250386
89Absent septum pellucidum (HP:0001331)2.02178502
90Hyperlipoproteinemia (HP:0010980)2.01983432
91Vaginal fistula (HP:0004320)2.01857702
92Clitoromegaly (HP:0000057)2.01427040
93Optic nerve hypoplasia (HP:0000609)2.01360916
94Polyphagia (HP:0002591)2.00691894
95Acute necrotizing encephalopathy (HP:0006965)2.00266609
96Lipid accumulation in hepatocytes (HP:0006561)1.99869715
97Absent thumb (HP:0009777)1.99429038
98Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.99271278
99Rickets (HP:0002748)1.99094320
100Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.98297139
101Chromsome breakage (HP:0040012)1.98266055
102Abnormal number of erythroid precursors (HP:0012131)1.98141238
103Esophageal atresia (HP:0002032)1.95746133
104Inability to walk (HP:0002540)1.95598919
105Acute encephalopathy (HP:0006846)1.95509466
106Aplasia cutis congenita (HP:0001057)1.95349847
107Intestinal atresia (HP:0011100)1.93957495
108Congenital sensorineural hearing impairment (HP:0008527)1.93567700
109Abnormal protein N-linked glycosylation (HP:0012347)1.93117587
110Abnormal protein glycosylation (HP:0012346)1.93117587
111Abnormal glycosylation (HP:0012345)1.93117587
112Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.93117587
113Dandy-Walker malformation (HP:0001305)1.93080121
114Occipital encephalocele (HP:0002085)1.91506239
115Prolonged partial thromboplastin time (HP:0003645)1.91227058
116Corneal erosion (HP:0200020)1.91145083
117Anomalous pulmonary venous return (HP:0010772)1.91116989
118Stomach cancer (HP:0012126)1.90440115
119Abnormal rod and cone electroretinograms (HP:0008323)1.89819038
120Aplasia/Hypoplasia of the patella (HP:0006498)1.89018943
121Oligodactyly (hands) (HP:0001180)1.87884680
122Bilateral microphthalmos (HP:0007633)1.87810967
123Impulsivity (HP:0100710)1.87751383
124Thyroid-stimulating hormone excess (HP:0002925)1.87629441
125Short tibia (HP:0005736)1.87226704
126Congenital nonbullous ichthyosiform erythroderma (HP:0007479)1.87080873
127* Dicarboxylic aciduria (HP:0003215)1.85195443
128* Abnormality of dicarboxylic acid metabolism (HP:0010995)1.85195443
129Severe combined immunodeficiency (HP:0004430)1.85028055
130Mitochondrial inheritance (HP:0001427)1.84403064
131Hypohidrosis (HP:0000966)1.84221347
132Cardiovascular calcification (HP:0011915)1.83168506
133Exertional dyspnea (HP:0002875)1.83168054
134Attenuation of retinal blood vessels (HP:0007843)1.82589280
135Abnormal mitochondria in muscle tissue (HP:0008316)1.82507781
136Anhidrosis (HP:0000970)1.81783883
137Poor coordination (HP:0002370)1.81437351
138Stenosis of the external auditory canal (HP:0000402)1.81290638
139Alopecia of scalp (HP:0002293)1.81277150
140Abnormality of the ileum (HP:0001549)1.81110970
141Absent radius (HP:0003974)1.80773873
142Meckel diverticulum (HP:0002245)1.79858419
143* Methylmalonic aciduria (HP:0012120)1.79401718
144Abnormal hemoglobin (HP:0011902)1.79111034
145Male pseudohermaphroditism (HP:0000037)1.78995466
146Decreased activity of mitochondrial respiratory chain (HP:0008972)1.78417422
147Abnormal activity of mitochondrial respiratory chain (HP:0011922)1.78417422
148Postaxial hand polydactyly (HP:0001162)1.78294326
149Abnormality of DNA repair (HP:0003254)1.77828546
150Glycosuria (HP:0003076)1.77616319
151Abnormality of urine glucose concentration (HP:0011016)1.77616319
152Aplasia involving forearm bones (HP:0009822)1.77198367
153Absent forearm bone (HP:0003953)1.77198367
154Abnormality of the septum pellucidum (HP:0007375)1.77145690
155Abnormality of the renal cortex (HP:0011035)1.76508867
156Optic disc pallor (HP:0000543)1.76300230
157Adrenal hypoplasia (HP:0000835)1.75766674
158Neurofibrillary tangles (HP:0002185)1.75614792
159Abnormality of molar morphology (HP:0011070)1.73763576
160Abnormality of molar (HP:0011077)1.73763576
161Rib fusion (HP:0000902)1.72134525
162Erythroderma (HP:0001019)1.71831936
163Premature loss of primary teeth (HP:0006323)1.71726281
164Supernumerary spleens (HP:0009799)1.71710805
165Delayed CNS myelination (HP:0002188)1.71412466
166Decreased central vision (HP:0007663)1.71352777
167Aplasia/Hypoplasia of the uvula (HP:0010293)1.71175691
168Xanthomatosis (HP:0000991)1.70986540
169Hypophosphatemic rickets (HP:0004912)1.70833852
170Renal hypoplasia (HP:0000089)1.70805197
171Multicystic kidney dysplasia (HP:0000003)1.70639191
172Abnormality of the dental root (HP:0006486)1.70532174
173Taurodontia (HP:0000679)1.70532174
174Abnormality of permanent molar morphology (HP:0011071)1.70532174
175Cerebral palsy (HP:0100021)1.69455587
176Cerebellar dysplasia (HP:0007033)1.69148808
177Gaze-evoked nystagmus (HP:0000640)1.68372769
178Hypoplasia of the pons (HP:0012110)1.67440155
179Horseshoe kidney (HP:0000085)1.67214272
180Triphalangeal thumb (HP:0001199)1.67176617
181Abnormality of alanine metabolism (HP:0010916)1.66803989
182Hyperalaninemia (HP:0003348)1.66803989
183Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.66803989
184Optic nerve coloboma (HP:0000588)1.66212270
185Broad foot (HP:0001769)1.66038731
186Broad-based gait (HP:0002136)1.66023507
187Increased CSF lactate (HP:0002490)1.65922504
188Polydipsia (HP:0001959)1.65835771
189Abnormal drinking behavior (HP:0030082)1.65835771

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA24.12850020
2WNK33.42905696
3FRK2.87513316
4PBK2.85769942
5BMPR1B2.51006790
6MAP4K22.46675534
7MAP2K22.42149461
8VRK22.39407159
9PDK22.36002737
10BUB12.28932318
11NME22.17596306
12STK392.14679475
13RPS6KB22.10818439
14EPHB12.10195720
15CDK192.07986973
16TAOK32.03413166
17MKNK22.01468546
18STK161.99319126
19DDR21.94934767
20ZAK1.92190425
21BLK1.86071930
22CASK1.81974639
23MKNK11.78247935
24NTRK21.78012229
25PINK11.75031436
26OXSR11.72867606
27MST41.70082966
28MAPK131.69136870
29EPHA41.67497278
30IRAK31.62234310
31TNIK1.58280813
32ACVR1B1.57099970
33MARK11.55818236
34MAP3K41.54259835
35RPS6KA51.52435192
36PIK3CA1.49815648
37MATK1.46836715
38STK38L1.46621257
39TRIM281.44363164
40GRK11.42943886
41MAP2K71.40330847
42PIM21.39160154
43BCKDK1.38358592
44TEC1.36875359
45TLK11.36672301
46TTK1.35931439
47MAPKAPK51.33848481
48FGFR21.31415899
49STK101.29345813
50MET1.28729806
51WEE11.27297244
52NLK1.22932684
53PLK41.22378032
54IRAK41.19856534
55TIE11.17836214
56EPHA31.17409810
57MUSK1.16035609
58TGFBR11.14636768
59PNCK1.11549112
60KDR1.09984745
61TYK21.08841773
62CDK31.08446515
63PRKCG1.08111544
64BRD41.07113333
65GRK71.06836234
66TXK1.06700477
67PIK3CG1.04187308
68SIK21.03655678
69FGR1.02898346
70NEK20.99206015
71CSNK1G20.98640337
72TRPM70.98378639
73EPHB20.95367916
74TESK20.93544892
75INSRR0.91450435
76TAOK20.90265537
77CSK0.90066968
78CDC70.89871479
79PRKD20.89857562
80BRSK20.87931236
81MOS0.87729827
82AKT30.87383806
83PASK0.85301170
84PRPF4B0.84470877
85TYRO30.84169784
86DYRK20.84081562
87CAMK10.82744420
88TNK20.82624585
89PKN10.81963469
90ATR0.78428513
91KIT0.78139485
92MST1R0.77775407
93DYRK30.77433867
94YES10.77411849
95MAPKAPK30.77339465
96EIF2AK20.77141704
97LYN0.76010880
98DYRK1A0.75633459
99PLK20.74625279
100PAK30.73117061
101STK40.72970317
102CSNK1G30.71881131
103PLK10.71781857
104SRPK10.70916114
105BRAF0.70806257
106DAPK20.70558595
107MAP4K10.70332960
108DYRK1B0.70328702
109NME10.69090326
110BTK0.68062404
111CSNK1A1L0.66685694
112ERBB20.66683473
113IKBKB0.65764623
114AKT20.64740255
115WNK10.64482907
116NEK60.64365142
117NTRK30.62143024
118MAPK150.61694018
119CDC42BPA0.61243438
120CSNK1A10.60882357
121CLK10.60601532
122NUAK10.59871748
123ABL20.59183948
124FGFR40.57921152
125MAPK70.57878939
126PLK30.57421455
127AURKA0.57071094
128ADRBK20.56428385
129CSNK1G10.56229208
130CDK70.55869637
131WNK40.54046996
132PRKCZ0.52846608
133VRK10.52612983
134PRKCE0.52420980
135CAMK2G0.52033308
136BMPR20.50344017
137CAMK2A0.50311987
138LCK0.50221984
139MAP3K110.49323860
140ROCK20.48772415
141CSF1R0.48046676
142ADRBK10.47971691
143AURKB0.47906620
144ERBB40.47534854
145CAMK2B0.46616148
146PRKACA0.45303437
147CAMK40.44858365
148ERN10.42767937
149PAK10.42612458
150ATM0.41932342
151CSNK2A10.41894219
152TAF10.37549799
153RPS6KA60.36439883
154ITK0.34852587
155CSNK1D0.34629046
156PRKCQ0.33856804
157STK110.32301675
158PRKDC0.31710194
159PRKAA10.31204850
160FES0.31008800
161PAK60.30963478
162CDK50.29888943
163MAP2K40.29697913
164CHUK0.27814564
165PTK2B0.27319643

Predicted pathways (KEGG)

RankGene SetZ-score
1Steroid biosynthesis_Homo sapiens_hsa001003.10830357
2Ribosome_Homo sapiens_hsa030102.83197841
3Fatty acid elongation_Homo sapiens_hsa000622.76783798
4Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.41589878
5Linoleic acid metabolism_Homo sapiens_hsa005912.41589272
6Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.36953767
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.33253583
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.20344929
9Cyanoamino acid metabolism_Homo sapiens_hsa004602.16617588
10Histidine metabolism_Homo sapiens_hsa003402.15939783
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.02768583
12Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.01459666
13Arachidonic acid metabolism_Homo sapiens_hsa005902.00956101
14Pentose and glucuronate interconversions_Homo sapiens_hsa000401.89136595
15Ether lipid metabolism_Homo sapiens_hsa005651.88522551
16Sphingolipid metabolism_Homo sapiens_hsa006001.80649776
17Nicotine addiction_Homo sapiens_hsa050331.79310581
18Selenocompound metabolism_Homo sapiens_hsa004501.75994974
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.74066580
20Sulfur metabolism_Homo sapiens_hsa009201.73122474
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.71898675
22Retinol metabolism_Homo sapiens_hsa008301.70178388
23Phototransduction_Homo sapiens_hsa047441.64235526
24Nitrogen metabolism_Homo sapiens_hsa009101.60185633
25beta-Alanine metabolism_Homo sapiens_hsa004101.59604364
26Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.57608583
27Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.56609282
28Folate biosynthesis_Homo sapiens_hsa007901.55080355
29Glutathione metabolism_Homo sapiens_hsa004801.53923530
30Non-homologous end-joining_Homo sapiens_hsa034501.53607681
31Chemical carcinogenesis_Homo sapiens_hsa052041.53044877
32Arginine and proline metabolism_Homo sapiens_hsa003301.51582055
33Oxidative phosphorylation_Homo sapiens_hsa001901.51283471
34Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.48946299
35Vitamin digestion and absorption_Homo sapiens_hsa049771.48630534
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.48551290
37RNA polymerase_Homo sapiens_hsa030201.45989603
38Caffeine metabolism_Homo sapiens_hsa002321.45198337
39Butanoate metabolism_Homo sapiens_hsa006501.45186423
40Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.41986159
41Fatty acid degradation_Homo sapiens_hsa000711.41286010
42Other glycan degradation_Homo sapiens_hsa005111.34730344
43Homologous recombination_Homo sapiens_hsa034401.29943182
44* Peroxisome_Homo sapiens_hsa041461.29629031
45Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.29488320
46Steroid hormone biosynthesis_Homo sapiens_hsa001401.29273242
47Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.29062983
48RNA degradation_Homo sapiens_hsa030181.28209222
49Propanoate metabolism_Homo sapiens_hsa006401.20189760
50Proteasome_Homo sapiens_hsa030501.10260628
51Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.08872795
52Tryptophan metabolism_Homo sapiens_hsa003801.07044632
53Fatty acid metabolism_Homo sapiens_hsa012121.04055087
54Primary bile acid biosynthesis_Homo sapiens_hsa001201.03999335
55Taste transduction_Homo sapiens_hsa047421.03622867
56Protein export_Homo sapiens_hsa030601.03157825
57Sulfur relay system_Homo sapiens_hsa041221.01705218
58Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.00784984
59Vitamin B6 metabolism_Homo sapiens_hsa007501.00350222
60Parkinsons disease_Homo sapiens_hsa050120.98319116
61Maturity onset diabetes of the young_Homo sapiens_hsa049500.97659218
62Base excision repair_Homo sapiens_hsa034100.96923152
63Nucleotide excision repair_Homo sapiens_hsa034200.96012398
64Fructose and mannose metabolism_Homo sapiens_hsa000510.94953281
65Hedgehog signaling pathway_Homo sapiens_hsa043400.93122121
66Mismatch repair_Homo sapiens_hsa034300.92674647
67Fat digestion and absorption_Homo sapiens_hsa049750.92183240
68Metabolic pathways_Homo sapiens_hsa011000.91419628
69Fanconi anemia pathway_Homo sapiens_hsa034600.91296977
70Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.91019948
71Cysteine and methionine metabolism_Homo sapiens_hsa002700.90222743
72Olfactory transduction_Homo sapiens_hsa047400.88804393
73Pyrimidine metabolism_Homo sapiens_hsa002400.88235780
74Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.87996072
75Drug metabolism - other enzymes_Homo sapiens_hsa009830.86015214
76Tyrosine metabolism_Homo sapiens_hsa003500.84987798
77Cardiac muscle contraction_Homo sapiens_hsa042600.83371640
78One carbon pool by folate_Homo sapiens_hsa006700.81654387
79PPAR signaling pathway_Homo sapiens_hsa033200.80834251
80Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.80602349
81Alzheimers disease_Homo sapiens_hsa050100.79279118
82Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.78738150
83Glycerophospholipid metabolism_Homo sapiens_hsa005640.78315115
84Glycosaminoglycan degradation_Homo sapiens_hsa005310.78123268
85Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.75819061
86Mineral absorption_Homo sapiens_hsa049780.74894519
87Galactose metabolism_Homo sapiens_hsa000520.74715219
88* ABC transporters_Homo sapiens_hsa020100.74325007
89Morphine addiction_Homo sapiens_hsa050320.72465651
90Phenylalanine metabolism_Homo sapiens_hsa003600.69755685
91DNA replication_Homo sapiens_hsa030300.69086015
92Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.68913504
93Pentose phosphate pathway_Homo sapiens_hsa000300.66807231
94Complement and coagulation cascades_Homo sapiens_hsa046100.65588355
95Pyruvate metabolism_Homo sapiens_hsa006200.63980001
96Spliceosome_Homo sapiens_hsa030400.62612289
97Primary immunodeficiency_Homo sapiens_hsa053400.62012663
98GABAergic synapse_Homo sapiens_hsa047270.60603691
99Starch and sucrose metabolism_Homo sapiens_hsa005000.59539736
100Fatty acid biosynthesis_Homo sapiens_hsa000610.59046121
101RNA transport_Homo sapiens_hsa030130.58958492
102Staphylococcus aureus infection_Homo sapiens_hsa051500.56572130
103Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.56045438
104Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.53901987
105Huntingtons disease_Homo sapiens_hsa050160.53887643
106Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.53370811
107Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51943315
108Glutamatergic synapse_Homo sapiens_hsa047240.49473191
109Ovarian steroidogenesis_Homo sapiens_hsa049130.47936805
110Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.47258904
111Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.46814744
112Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.46525410
113Purine metabolism_Homo sapiens_hsa002300.46419366
114Lysine degradation_Homo sapiens_hsa003100.45761809
115Serotonergic synapse_Homo sapiens_hsa047260.45614085
116Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.43044907
117Glycerolipid metabolism_Homo sapiens_hsa005610.42863137
118Basal transcription factors_Homo sapiens_hsa030220.42231704
119Collecting duct acid secretion_Homo sapiens_hsa049660.40559947
120Axon guidance_Homo sapiens_hsa043600.39939006
121Circadian entrainment_Homo sapiens_hsa047130.39610366
122Carbon metabolism_Homo sapiens_hsa012000.37922733
123Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.37554716
124Lysosome_Homo sapiens_hsa041420.37214633
125Cocaine addiction_Homo sapiens_hsa050300.35938518
126Regulation of autophagy_Homo sapiens_hsa041400.35283119
127Graft-versus-host disease_Homo sapiens_hsa053320.33319010
128Intestinal immune network for IgA production_Homo sapiens_hsa046720.32941060
129Basal cell carcinoma_Homo sapiens_hsa052170.30291895

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