ABCB5

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: ABCB5 belongs to the ATP-binding cassette (ABC) transporter superfamily of integral membrane proteins. These proteins participate in ATP-dependent transmembrane transport of structurally diverse molecules ranging from small ions, sugars, and peptides to more complex organic molecules (Chen et al., 2005 [PubMed 15760339]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1complement activation, alternative pathway (GO:0006957)8.10107025
2negative regulation of receptor-mediated endocytosis (GO:0048261)6.88085443
3macroautophagy (GO:0016236)6.41408693
4melanocyte differentiation (GO:0030318)5.93429653
5pigment cell differentiation (GO:0050931)5.77672838
6regulation of calcium ion-dependent exocytosis (GO:0017158)5.70516424
7sulfur amino acid catabolic process (GO:0000098)5.64997625
8regulation of nephron tubule epithelial cell differentiation (GO:0072182)5.53623876
9regulation of Cdc42 GTPase activity (GO:0043088)5.49422798
10ketone body metabolic process (GO:1902224)5.48940977
11regulation of epithelial cell differentiation involved in kidney development (GO:2000696)5.24674605
12melanosome organization (GO:0032438)5.24055319
13negative regulation of organelle assembly (GO:1902116)5.05945466
14phenol-containing compound biosynthetic process (GO:0046189)5.04652157
15eye photoreceptor cell differentiation (GO:0001754)5.03431088
16photoreceptor cell differentiation (GO:0046530)5.03431088
17regulation of complement activation (GO:0030449)4.97192466
18pigment granule organization (GO:0048753)4.91424083
19GPI anchor biosynthetic process (GO:0006506)4.87084766
20response to misfolded protein (GO:0051788)4.86100964
21negative regulation of interleukin-1 beta production (GO:0032691)4.85333694
22epithelial cell differentiation involved in kidney development (GO:0035850)4.85278358
23tyrosine metabolic process (GO:0006570)4.81805036
24regulation of protein activation cascade (GO:2000257)4.80698936
25cellular sodium ion homeostasis (GO:0006883)4.77758128
26cytolysis (GO:0019835)4.72727109
27GPI anchor metabolic process (GO:0006505)4.65024531
28binding of sperm to zona pellucida (GO:0007339)4.62836566
29endosome to pigment granule transport (GO:0043485)4.49775991
30endosome to melanosome transport (GO:0035646)4.49775991
31neuroepithelial cell differentiation (GO:0060563)4.48213167
32serine family amino acid catabolic process (GO:0009071)4.47372684
33vitamin transmembrane transport (GO:0035461)4.43494138
34atrial cardiac muscle cell action potential (GO:0086014)4.26036853
35misfolded or incompletely synthesized protein catabolic process (GO:0006515)4.24737599
36cysteine metabolic process (GO:0006534)4.15398275
37pyrimidine ribonucleoside catabolic process (GO:0046133)4.07181270
38negative regulation of interleukin-1 production (GO:0032692)4.04124846
39polyamine biosynthetic process (GO:0006596)3.92026909
40response to hydroperoxide (GO:0033194)3.92021545
41detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.86789352
42L-serine metabolic process (GO:0006563)3.84302613
43fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.83052030
44negative regulation of metanephros development (GO:0072217)3.82184263
45DNA deamination (GO:0045006)3.82128334
46homocysteine metabolic process (GO:0050667)3.80881338
47kidney morphogenesis (GO:0060993)3.80425202
48piRNA metabolic process (GO:0034587)3.79712945
49alpha-linolenic acid metabolic process (GO:0036109)3.75553890
50behavioral response to nicotine (GO:0035095)3.74393603
51mannose metabolic process (GO:0006013)3.73897923
52regulation of hydrogen peroxide metabolic process (GO:0010310)3.67446468
53fibroblast migration (GO:0010761)3.65972465
54negative regulation of reactive oxygen species metabolic process (GO:2000378)3.62056107
55secondary metabolic process (GO:0019748)3.60653561
56developmental pigmentation (GO:0048066)3.57089157
57sulfation (GO:0051923)3.55686937
58kynurenine metabolic process (GO:0070189)3.54847612
59response to pheromone (GO:0019236)3.53603952
60negative regulation of endopeptidase activity (GO:0010951)3.53337237
61cornea development in camera-type eye (GO:0061303)3.51176332
62sperm-egg recognition (GO:0035036)3.48975131
63phasic smooth muscle contraction (GO:0014821)3.45400288
64negative regulation of microtubule depolymerization (GO:0007026)3.41998955
65CDP-diacylglycerol metabolic process (GO:0046341)3.39927271
66parturition (GO:0007567)3.39449601
67negative regulation of peptidase activity (GO:0010466)3.39376115
68peristalsis (GO:0030432)3.36654134
69platelet dense granule organization (GO:0060155)3.35915494
70linoleic acid metabolic process (GO:0043651)3.34853166
71valine metabolic process (GO:0006573)3.33882263
72pyrimidine-containing compound transmembrane transport (GO:0072531)3.31738959
73CDP-diacylglycerol biosynthetic process (GO:0016024)3.28787541
74negative regulation of telomere maintenance (GO:0032205)3.28274503
75cellular ketone body metabolic process (GO:0046950)3.27941225
76regulation of microtubule depolymerization (GO:0031114)3.27678739
77regulation of spindle organization (GO:0090224)3.26915021
78sodium ion homeostasis (GO:0055078)3.25905437
79mitochondrial respiratory chain complex I assembly (GO:0032981)3.24905500
80NADH dehydrogenase complex assembly (GO:0010257)3.24905500
81mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.24905500
82regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)3.23225418
83lung-associated mesenchyme development (GO:0060484)3.20553871
84serine family amino acid metabolic process (GO:0009069)3.20477984
85carnitine transport (GO:0015879)3.20296725
86amino-acid betaine transport (GO:0015838)3.20296725
87serine family amino acid biosynthetic process (GO:0009070)3.19649077
88complement activation, classical pathway (GO:0006958)3.19417677
89folic acid-containing compound biosynthetic process (GO:0009396)3.18536497
90organic cation transport (GO:0015695)3.15254140
91L-methionine biosynthetic process from methylthioadenosine (GO:0019509)3.15248677
92pseudouridine synthesis (GO:0001522)3.11617106
93glycine metabolic process (GO:0006544)3.10674493
94respiratory burst (GO:0045730)3.08928632
95negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.07653524
96positive regulation of guanylate cyclase activity (GO:0031284)3.07043404
97ethanol oxidation (GO:0006069)3.06193043
98response to nitrosative stress (GO:0051409)3.06184420
99cell-cell recognition (GO:0009988)3.06098139
100phospholipid homeostasis (GO:0055091)3.01451639
101regulation of bile acid biosynthetic process (GO:0070857)3.00850903
102regulation of hippo signaling (GO:0035330)3.00044018
103L-fucose catabolic process (GO:0042355)2.99733182
104fucose catabolic process (GO:0019317)2.99733182
105L-fucose metabolic process (GO:0042354)2.99733182
106negative regulation of endocytosis (GO:0045806)2.97426965
107anterior/posterior axis specification, embryo (GO:0008595)2.96844930
108positive regulation of response to oxidative stress (GO:1902884)2.96223852
109positive regulation of cellular response to oxidative stress (GO:1900409)2.96223852
110carnitine transmembrane transport (GO:1902603)2.96082875
111G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.96040237
112DNA methylation involved in gamete generation (GO:0043046)2.91761857
113proline transport (GO:0015824)2.90902373
114postsynaptic membrane organization (GO:0001941)2.90613563
115complement activation (GO:0006956)2.89144990
116triglyceride biosynthetic process (GO:0019432)2.89062573
117negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)2.88593697
118positive regulation of receptor biosynthetic process (GO:0010870)2.88055839
119adult feeding behavior (GO:0008343)2.87717375
120regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033392.87153175
121regulation of mitotic spindle organization (GO:0060236)2.86457528
122epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.85303925
123biotin metabolic process (GO:0006768)2.84096724
124signal peptide processing (GO:0006465)2.82655788
125protein polyglutamylation (GO:0018095)2.82044598
126negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.81421572
127mannosylation (GO:0097502)2.81052233
128pigment biosynthetic process (GO:0046148)2.80916034
129urinary tract smooth muscle contraction (GO:0014848)2.79719973
130protein K11-linked deubiquitination (GO:0035871)2.78711567
131inositol phosphate catabolic process (GO:0071545)2.78207490
132detection of light stimulus involved in sensory perception (GO:0050962)2.77812339
133detection of light stimulus involved in visual perception (GO:0050908)2.77812339
134auditory receptor cell stereocilium organization (GO:0060088)2.77783398
135regulation of histone H3-K27 methylation (GO:0061085)2.77399816
136negative regulation of proteolysis (GO:0045861)2.77344815
137mitotic metaphase plate congression (GO:0007080)2.76667121
138protein complex biogenesis (GO:0070271)2.75353572
139preassembly of GPI anchor in ER membrane (GO:0016254)2.75263603
140response to xenobiotic stimulus (GO:0009410)2.74548308
141acylglycerol biosynthetic process (GO:0046463)2.74247371
142neutral lipid biosynthetic process (GO:0046460)2.74247371
143collecting duct development (GO:0072044)2.71845584
144aromatic amino acid family metabolic process (GO:0009072)2.71507108
145regulation of guanylate cyclase activity (GO:0031282)2.71467257
146folic acid transport (GO:0015884)2.70310378
147vitamin transport (GO:0051180)2.70290983
148arginine catabolic process (GO:0006527)2.70033033
149nucleobase biosynthetic process (GO:0046112)2.67790369
150retinal rod cell development (GO:0046548)2.66167040
151negative regulation of protein maturation (GO:1903318)2.65709629
152negative regulation of protein processing (GO:0010955)2.65709629
153positive regulation of respiratory burst (GO:0060267)2.65493120
154negative regulation of protein autophosphorylation (GO:0031953)2.65230867
1553-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.64253841
156purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.64253841
157L-methionine salvage (GO:0071267)2.63554016
158L-methionine biosynthetic process (GO:0071265)2.63554016
159amino acid salvage (GO:0043102)2.63554016
160sperm motility (GO:0030317)2.63320101
161regulation of lipoprotein metabolic process (GO:0050746)2.62750173
162metanephric tubule development (GO:0072170)2.62139667
163metanephric nephron tubule development (GO:0072234)2.62139667
164regulation of cilium assembly (GO:1902017)2.61889361
165regulation of hydrogen peroxide-induced cell death (GO:1903205)2.61260059
166negative regulation of lipase activity (GO:0060192)2.60849359
167regulation of microtubule-based movement (GO:0060632)2.60743862
168sulfate transport (GO:0008272)2.58234655
169columnar/cuboidal epithelial cell differentiation (GO:0002065)2.57494462
170inositol phosphate dephosphorylation (GO:0046855)2.57079446
171phosphorylated carbohydrate dephosphorylation (GO:0046838)2.57079446
172positive regulation of fatty acid oxidation (GO:0046321)2.56010009
173synapsis (GO:0007129)2.54918859
174pigment granule localization (GO:0051875)2.54803157
175mitochondrial respiratory chain complex assembly (GO:0033108)2.54561192
176reflex (GO:0060004)2.51554788
177DNA-dependent DNA replication (GO:0006261)2.49901701
178nonmotile primary cilium assembly (GO:0035058)2.49868263
179regulation of mesoderm development (GO:2000380)2.49657211
180regulation of cilium movement (GO:0003352)2.49126608
181short-chain fatty acid metabolic process (GO:0046459)2.48809192
182transepithelial transport (GO:0070633)2.48405322
183myotube differentiation (GO:0014902)2.47940476
184melanosome localization (GO:0032400)2.46655843
185visual perception (GO:0007601)2.46571438
186pigment metabolic process (GO:0042440)2.46380845
187pigment granule transport (GO:0051904)2.45442878
188regulation of neurotransmitter uptake (GO:0051580)2.45123797
189polyol catabolic process (GO:0046174)2.44769599
190sensory perception of light stimulus (GO:0050953)2.43406943
191ovulation cycle (GO:0042698)2.43376839
192fusion of sperm to egg plasma membrane (GO:0007342)16.4310403
193regulation of acrosome reaction (GO:0060046)15.1797201
194plasma membrane fusion (GO:0045026)12.5178828
195melanin biosynthetic process (GO:0042438)12.3530640
196melanin metabolic process (GO:0006582)11.1621155
197secondary metabolite biosynthetic process (GO:0044550)11.1222211
198regulation of clathrin-mediated endocytosis (GO:2000369)11.1081831

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF263_19887448_ChIP-Seq_K562_Human5.45583248
2IGF1R_20145208_ChIP-Seq_DFB_Human5.24421366
3KAP1_22055183_ChIP-Seq_ESCs_Mouse3.73262242
4AR_21572438_ChIP-Seq_LNCaP_Human3.46317804
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.41770739
6ESR1_21235772_ChIP-Seq_MCF-7_Human3.30675474
7ZNF274_21170338_ChIP-Seq_K562_Hela3.06820953
8ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.96487337
9GBX2_23144817_ChIP-Seq_PC3_Human2.84362135
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.83784886
11ESR2_21235772_ChIP-Seq_MCF-7_Human2.83130824
12VDR_22108803_ChIP-Seq_LS180_Human2.80533161
13AR_21909140_ChIP-Seq_LNCAP_Human2.76933101
14FOXM1_23109430_ChIP-Seq_U2OS_Human2.61425401
15CLOCK_20551151_ChIP-Seq_293T_Human2.52268200
16POU3F2_20337985_ChIP-ChIP_501MEL_Human2.49416061
17FUS_26573619_Chip-Seq_HEK293_Human2.39701187
18RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.32734454
19MYC_19915707_ChIP-ChIP_AK7_Human2.21726450
20MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.21264097
21LXR_22158963_ChIP-Seq_LIVER_Mouse2.16030265
22EZH2_22144423_ChIP-Seq_EOC_Human2.15464478
23* P300_19829295_ChIP-Seq_ESCs_Human2.13854217
24CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.01873899
25TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.00509240
26SALL1_21062744_ChIP-ChIP_HESCs_Human1.99704657
27SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.98017825
28RXR_22158963_ChIP-Seq_LIVER_Mouse1.95366259
29ER_23166858_ChIP-Seq_MCF-7_Human1.94693752
30GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87344025
31HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.85550341
32ELK4_26923725_Chip-Seq_MESODERM_Mouse1.84896562
33TRIM28_21343339_ChIP-Seq_HEK293_Human1.83588722
34CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse1.82579784
35CTBP1_25329375_ChIP-Seq_LNCAP_Human1.81478453
36E2F7_22180533_ChIP-Seq_HELA_Human1.81417261
37POU5F1_16153702_ChIP-ChIP_HESCs_Human1.78690784
38AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.78309829
39* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.74463436
40* TCF4_23295773_ChIP-Seq_U87_Human1.73756343
41STAT1_17558387_ChIP-Seq_HELA_Human1.72276000
42MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.71945279
43EGR1_23403033_ChIP-Seq_LIVER_Mouse1.71729930
44POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.69982845
45MYC_19079543_ChIP-ChIP_MESCs_Mouse1.69886391
46CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.68617384
47TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.65883399
48POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.65883399
49* STAT3_23295773_ChIP-Seq_U87_Human1.65646006
50EWS_26573619_Chip-Seq_HEK293_Human1.65187158
51PPARA_22158963_ChIP-Seq_LIVER_Mouse1.63230336
52RXRA_24833708_ChIP-Seq_LIVER_Mouse1.61549913
53TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.60982205
54SALL4_18804426_ChIP-ChIP_XEN_Mouse1.59593585
55NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.59209670
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.58611169
57* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.57875755
58AR_25329375_ChIP-Seq_VCAP_Human1.57420233
59MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.57307115
60FOXA1_27270436_Chip-Seq_PROSTATE_Human1.57164942
61FOXA1_25329375_ChIP-Seq_VCAP_Human1.57164942
62NANOG_18555785_ChIP-Seq_MESCs_Mouse1.56857129
63FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.56444405
64STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.54902668
65IRF1_19129219_ChIP-ChIP_H3396_Human1.53175452
66PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.53034692
67GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.51877010
68PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.50738841
69PPAR_26484153_Chip-Seq_NCI-H1993_Human1.50187842
70* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.48639102
71CBP_20019798_ChIP-Seq_JUKART_Human1.48355078
72IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.48355078
73* SMAD4_21799915_ChIP-Seq_A2780_Human1.47308545
74SMAD3_21741376_ChIP-Seq_EPCs_Human1.46006195
75FOXH1_21741376_ChIP-Seq_ESCs_Human1.44922406
76FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.44031416
77* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43398421
78OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43380178
79SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.42852947
80PIAS1_25552417_ChIP-Seq_VCAP_Human1.42594083
81GATA3_21878914_ChIP-Seq_MCF-7_Human1.41906463
82TCF4_22108803_ChIP-Seq_LS180_Human1.39668958
83CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.37661731
84HOXB7_26014856_ChIP-Seq_BT474_Human1.36934202
85CDX2_19796622_ChIP-Seq_MESCs_Mouse1.36627158
86AHR_22903824_ChIP-Seq_MCF-7_Human1.36506538
87TP53_22573176_ChIP-Seq_HFKS_Human1.35810322
88BCAT_22108803_ChIP-Seq_LS180_Human1.34974438
89REST_21632747_ChIP-Seq_MESCs_Mouse1.32004655
90NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29043585
91KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.27805243
92E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.27567603
93NR3C1_21868756_ChIP-Seq_MCF10A_Human1.27517117
94* FLI1_21867929_ChIP-Seq_TH2_Mouse1.27505977
95IRF8_22096565_ChIP-ChIP_GC-B_Human1.27325731
96CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.27279747
97* SMAD4_21741376_ChIP-Seq_EPCs_Human1.27009668
98KLF5_20875108_ChIP-Seq_MESCs_Mouse1.26976583
99PCGF2_27294783_Chip-Seq_ESCs_Mouse1.25496216
100TOP2B_26459242_ChIP-Seq_MCF-7_Human1.24670114
101EZH2_27294783_Chip-Seq_NPCs_Mouse1.24491142
102BMI1_23680149_ChIP-Seq_NPCS_Mouse1.24189109
103GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.23710302
104CBX2_27304074_Chip-Seq_ESCs_Mouse1.23045166
105* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.22792886
106PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.22457999
107CEBPB_22108803_ChIP-Seq_LS180_Human1.22377776
108TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.22241723
109CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20904916
110CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.20808573
111NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.20549400
112TAL1_26923725_Chip-Seq_HPCs_Mouse1.20063953
113NFE2_27457419_Chip-Seq_LIVER_Mouse1.18492126
114OCT1_27270436_Chip-Seq_PROSTATE_Human1.18166589
115FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.17790918
116CRX_20693478_ChIP-Seq_RETINA_Mouse1.17430040
117KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.17071277
118TAF2_19829295_ChIP-Seq_ESCs_Human1.17047736
119SOX2_19829295_ChIP-Seq_ESCs_Human1.16947710
120NANOG_19829295_ChIP-Seq_ESCs_Human1.16947710
121Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.16882560
122* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15770803
123FOXH1_21741376_ChIP-Seq_EPCs_Human1.15693554
124NANOG_18692474_ChIP-Seq_MESCs_Mouse1.15095875
125SUZ12_27294783_Chip-Seq_NPCs_Mouse1.15048678
126* MYC_18940864_ChIP-ChIP_HL60_Human1.14594362
127GATA3_21867929_ChIP-Seq_CD8_Mouse1.14548664
128NANOG_16518401_ChIP-PET_MESCs_Mouse1.14187014
129NCOR_22424771_ChIP-Seq_293T_Human1.12656508
130FOXO3_23340844_ChIP-Seq_DLD1_Human1.11949283
131TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11635389
132EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.11497503
133SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.11059221
134PRDM14_20953172_ChIP-Seq_ESCs_Human1.10868951
135TAF15_26573619_Chip-Seq_HEK293_Human1.09835444
136ETV2_25802403_ChIP-Seq_MESCs_Mouse1.09333624
137* RUNX2_22187159_ChIP-Seq_PCA_Human1.08906599
138GABP_17652178_ChIP-ChIP_JURKAT_Human1.08447965
139MYC_19829295_ChIP-Seq_ESCs_Human1.07912658
140ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.07491677
141AR_20517297_ChIP-Seq_VCAP_Human1.06887433
142REST_18959480_ChIP-ChIP_MESCs_Mouse1.06121787
143TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.05490135
144TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.05120545
145P53_22387025_ChIP-Seq_ESCs_Mouse1.04867553
146TP53_16413492_ChIP-PET_HCT116_Human1.04688229
147CHD1_26751641_Chip-Seq_LNCaP_Human1.04398136
148NANOG_18555785_Chip-Seq_ESCs_Mouse1.03967208
149TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.03912992
150NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.03720336
151EST1_17652178_ChIP-ChIP_JURKAT_Human1.03519004
152SOX2_20726797_ChIP-Seq_SW620_Human1.03241916
153AUTS2_25519132_ChIP-Seq_293T-REX_Human1.02900295
154FLI1_21867929_ChIP-Seq_CD8_Mouse1.02377004
155ARNT_22903824_ChIP-Seq_MCF-7_Human1.02159879
156GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01662713
157RNF2_27304074_Chip-Seq_NSC_Mouse1.01661913
158KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.01141796
159* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.00626053
160BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.00398755
161CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00327314
162SETDB1_19884257_ChIP-Seq_MESCs_Mouse0.99356900
163CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98951124
164OCT4_20526341_ChIP-Seq_ESCs_Human0.98671296
165P53_21459846_ChIP-Seq_SAOS-2_Human0.97758916
166GATA3_24758297_ChIP-Seq_MCF-7_Human0.97463146
167RAC3_21632823_ChIP-Seq_H3396_Human0.97077996
168SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96996863
169CDX2_22108803_ChIP-Seq_LS180_Human0.96726030
170EOMES_21245162_ChIP-Seq_HESCs_Human0.96074872
171CSB_26484114_Chip-Seq_FIBROBLAST_Human0.95299511
172SOX2_27498859_Chip-Seq_STOMACH_Mouse0.94952522
173ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94077864
174ATF3_27146783_Chip-Seq_COLON_Human0.93570402
175EGR1_19374776_ChIP-ChIP_THP-1_Human0.92905549
176WDR5_24793694_ChIP-Seq_LNCAP_Human0.92244117
177NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.92044508
178PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.91759299
179P68_20966046_ChIP-Seq_HELA_Human0.91381672
180TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90941480
181NANOG_18692474_ChIP-Seq_MEFs_Mouse0.90411318
182FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.90294276
183NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.89338088

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000372_irregular_coat_pigmentation7.19073675
2MP0003136_yellow_coat_color7.03748325
3MP0005171_absent_coat_pigmentation6.50044443
4MP0005058_abnormal_lysosome_morphology5.00758901
5MP0005377_hearing/vestibular/ear_phenot4.72499278
6MP0003878_abnormal_ear_physiology4.72499278
7MP0000015_abnormal_ear_pigmentation4.27470706
8MP0000569_abnormal_digit_pigmentation3.96216505
9MP0005075_abnormal_melanosome_morpholog3.80443615
10MP0002139_abnormal_hepatobiliary_system3.40355405
11MP0002095_abnormal_skin_pigmentation3.30439236
12MP0005174_abnormal_tail_pigmentation3.27405550
13MP0004019_abnormal_vitamin_homeostasis3.01498820
14MP0003646_muscle_fatigue2.98091878
15MP0004147_increased_porphyrin_level2.85306408
16MP0010234_abnormal_vibrissa_follicle2.83399863
17MP0000371_diluted_coat_color2.81238559
18MP0004381_abnormal_hair_follicle2.78949682
19MP0002102_abnormal_ear_morphology2.76157282
20MP0005670_abnormal_white_adipose2.64335301
21MP0005257_abnormal_intraocular_pressure2.59963322
22MP0003705_abnormal_hypodermis_morpholog2.52269939
23MP0008995_early_reproductive_senescence2.49937240
24MP0005275_abnormal_skin_tensile2.44389255
25MP0002938_white_spotting2.42755545
26MP0002138_abnormal_hepatobiliary_system2.38564682
27MP0003718_maternal_effect2.36135882
28MP0001324_abnormal_eye_pigmentation2.33844769
29MP0003300_gastrointestinal_ulcer2.33715356
30MP0003195_calcinosis2.13503640
31MP0010329_abnormal_lipoprotein_level2.06580347
32MP0005365_abnormal_bile_salt2.01499044
33MP0002638_abnormal_pupillary_reflex2.00425482
34MP0003693_abnormal_embryo_hatching1.98832928
35MP0002075_abnormal_coat/hair_pigmentati1.78477461
36MP0005253_abnormal_eye_physiology1.76055719
37MP0005666_abnormal_adipose_tissue1.75467963
38MP0003123_paternal_imprinting1.74643096
39MP0005410_abnormal_fertilization1.74423842
40MP0005636_abnormal_mineral_homeostasis1.73808531
41MP0001661_extended_life_span1.71276992
42MP0004885_abnormal_endolymph1.67910845
43MP0003879_abnormal_hair_cell1.67391629
44MP0002877_abnormal_melanocyte_morpholog1.61732700
45MP0001756_abnormal_urination1.60856810
46MP0010678_abnormal_skin_adnexa1.59352795
47MP0005395_other_phenotype1.59280916
48MP0003111_abnormal_nucleus_morphology1.58042501
49MP0005085_abnormal_gallbladder_physiolo1.57655939
50MP0005551_abnormal_eye_electrophysiolog1.56852757
51MP0005167_abnormal_blood-brain_barrier1.56094433
52MP0008438_abnormal_cutaneous_collagen1.55757008
53MP0003698_abnormal_male_reproductive1.52944130
54MP0005375_adipose_tissue_phenotype1.52265054
55MP0004858_abnormal_nervous_system1.51477755
56MP0008260_abnormal_autophagy1.50958903
57MP0002009_preneoplasia1.47152726
58MP0004185_abnormal_adipocyte_glucose1.45677131
59MP0008004_abnormal_stomach_pH1.44199996
60MP0005646_abnormal_pituitary_gland1.44092311
61MP0005332_abnormal_amino_acid1.42577032
62MP0002822_catalepsy1.39684467
63MP0001186_pigmentation_phenotype1.38826852
64MP0010386_abnormal_urinary_bladder1.38638622
65MP0009384_cardiac_valve_regurgitation1.38538579
66MP0003252_abnormal_bile_duct1.38002301
67MP0009763_increased_sensitivity_to1.36747914
68MP0001177_atelectasis1.36494373
69MP0003045_fibrosis1.36091097
70MP0005451_abnormal_body_composition1.33929203
71MP0002837_dystrophic_cardiac_calcinosis1.33736620
72MP0001958_emphysema1.32238325
73MP0005248_abnormal_Harderian_gland1.31632505
74MP0003011_delayed_dark_adaptation1.31025365
75MP0000003_abnormal_adipose_tissue1.29693439
76MP0001765_abnormal_ion_homeostasis1.27803748
77MP0009643_abnormal_urine_homeostasis1.25314111
78MP0000609_abnormal_liver_physiology1.22891352
79MP0002118_abnormal_lipid_homeostasis1.20027960
80MP0000383_abnormal_hair_follicle1.17528809
81MP0002876_abnormal_thyroid_physiology1.15501600
82MP0005360_urolithiasis1.15480613
83MP0009046_muscle_twitch1.14613659
84MP0006138_congestive_heart_failure1.14111683
85MP0004264_abnormal_extraembryonic_tissu1.10799486
86MP0001485_abnormal_pinna_reflex1.08296575
87MP0000566_synostosis1.07623213
88MP0005408_hypopigmentation1.07409525
89MP0003656_abnormal_erythrocyte_physiolo1.03538595
90MP0009672_abnormal_birth_weight1.03147530
91MP0004043_abnormal_pH_regulation1.02437797
92MP0003938_abnormal_ear_development1.02361215
93MP0002168_other_aberrant_phenotype1.02239575
94MP0002166_altered_tumor_susceptibility1.02145597
95MP0002796_impaired_skin_barrier1.01995743
96MP0002735_abnormal_chemical_nociception1.00864771
97MP0003806_abnormal_nucleotide_metabolis1.00742140
98MP0001501_abnormal_sleep_pattern0.99918742
99MP0008877_abnormal_DNA_methylation0.99292796
100MP0001348_abnormal_lacrimal_gland0.99101526
101MP0002090_abnormal_vision0.98909672
102MP0002006_tumorigenesis0.97957528
103MP0003191_abnormal_cellular_cholesterol0.97936897
104MP0009840_abnormal_foam_cell0.93610548
105MP0003786_premature_aging0.93422954
106MP0002136_abnormal_kidney_physiology0.92772308
107MP0001984_abnormal_olfaction0.91959367
108MP0008872_abnormal_physiological_respon0.91914806
109MP0003950_abnormal_plasma_membrane0.91378220
110MP0001666_abnormal_nutrient_absorption0.91278647
111MP0003632_abnormal_nervous_system0.91276575
112MP0005645_abnormal_hypothalamus_physiol0.90746788
113MP0002161_abnormal_fertility/fecundity0.88047090
114MP0004130_abnormal_muscle_cell0.87294663
115MP0005386_behavior/neurological_phenoty0.86957827
116MP0004924_abnormal_behavior0.86957827
117MP0005197_abnormal_uvea_morphology0.86711507
118MP0004270_analgesia0.86540204
119MP0005310_abnormal_salivary_gland0.84217995
120MP0003699_abnormal_female_reproductive0.83841181
121MP0001145_abnormal_male_reproductive0.83634626
122MP0003936_abnormal_reproductive_system0.82968670
123MP0005187_abnormal_penis_morphology0.81349650
124MP0001929_abnormal_gametogenesis0.81224253
125MP0004957_abnormal_blastocyst_morpholog0.79257215
126MP0001486_abnormal_startle_reflex0.78637364
127MP0000653_abnormal_sex_gland0.78194210
128MP0002693_abnormal_pancreas_physiology0.78157349
129MP0005195_abnormal_posterior_eye0.77534782
130MP0009115_abnormal_fat_cell0.77085724
131MP0002272_abnormal_nervous_system0.75633360
132MP0005319_abnormal_enzyme/_coenzyme0.73600766
133MP0004947_skin_inflammation0.71929623
134MP0002254_reproductive_system_inflammat0.71838412
135MP0000627_abnormal_mammary_gland0.71418219
136MP0005391_vision/eye_phenotype0.69261463
137MP0002557_abnormal_social/conspecific_i0.68864552
138MP0001730_embryonic_growth_arrest0.68665372
139MP0001764_abnormal_homeostasis0.68624062
140MP0003221_abnormal_cardiomyocyte_apopto0.68578388
141MP0009745_abnormal_behavioral_response0.68434820
142MP0000230_abnormal_systemic_arterial0.67823647
143MP0002295_abnormal_pulmonary_circulatio0.67786431
144MP0000462_abnormal_digestive_system0.67759287
145MP0002653_abnormal_ependyma_morphology0.66204265
146MP0003690_abnormal_glial_cell0.65113534
147MP0002210_abnormal_sex_determination0.64615514
148MP0002229_neurodegeneration0.64547780
149MP0004036_abnormal_muscle_relaxation0.62840619
150MP0005409_darkened_coat_color0.60820128
151MP0001970_abnormal_pain_threshold0.60054939
152MP0005389_reproductive_system_phenotype0.59337735
153MP0001905_abnormal_dopamine_level0.59064716
154MP0004142_abnormal_muscle_tone0.58051836
155MP0003137_abnormal_impulse_conducting0.57084473
156MP0006072_abnormal_retinal_apoptosis0.56600483
157MP0001919_abnormal_reproductive_system0.55946585
158MP0002064_seizures0.55945289
159MP0002733_abnormal_thermal_nociception0.55843864
160MP0001529_abnormal_vocalization0.55649975
161MP0008875_abnormal_xenobiotic_pharmacok0.54533089
162MP0004133_heterotaxia0.51961001
163MP0001968_abnormal_touch/_nociception0.51137702
164MP0008775_abnormal_heart_ventricle0.50375223
165MP0000427_abnormal_hair_cycle0.50309764
166MP0003890_abnormal_embryonic-extraembry0.48894167
167MP0002160_abnormal_reproductive_system0.46644855
168MP0001963_abnormal_hearing_physiology0.45910631
169MP0000647_abnormal_sebaceous_gland0.44892797
170MP0002736_abnormal_nociception_after0.44185813
171MP0002067_abnormal_sensory_capabilities0.44135441
172MP0000631_abnormal_neuroendocrine_gland0.43080726
173MP0004742_abnormal_vestibular_system0.41780772
174MP0003172_abnormal_lysosome_physiology0.39937728
175MP0001502_abnormal_circadian_rhythm0.39805300
176MP0002752_abnormal_somatic_nervous0.38409915
177MP0002572_abnormal_emotion/affect_behav0.38115432
178MP0002177_abnormal_outer_ear0.35567899
179MP0006276_abnormal_autonomic_nervous0.35412150
180MP0002751_abnormal_autonomic_nervous0.33728546
181MP0006292_abnormal_olfactory_placode0.32505464
182MP0003283_abnormal_digestive_organ0.29680637

Predicted human phenotypes

RankGene SetZ-score
1Hypoplasia of the fovea (HP:0007750)7.57573794
2Aplasia/Hypoplasia of the fovea (HP:0008060)7.57573794
3Complement deficiency (HP:0004431)7.34350693
4Aplasia/Hypoplasia of the macula (HP:0008059)6.36883443
5Aplasia/Hypoplasia affecting the retina (HP:0008061)5.92620761
6Blue irides (HP:0000635)5.59085305
7Ocular albinism (HP:0001107)5.36847639
8Recurrent gram-negative bacterial infections (HP:0005420)5.33971891
9White forelock (HP:0002211)5.28448522
10Abnormality of the fovea (HP:0000493)5.21826752
11Choroideremia (HP:0001139)5.17363266
12Abnormality of complement system (HP:0005339)5.08624026
13Iris hypopigmentation (HP:0007730)4.87667446
14Patchy hypopigmentation of hair (HP:0011365)4.85819297
15Abnormality of macular pigmentation (HP:0008002)4.71207868
16Congenital sensorineural hearing impairment (HP:0008527)4.63703919
17Cone-rod dystrophy (HP:0000548)4.49431754
18Central scotoma (HP:0000603)4.46526678
19Congenital stationary night blindness (HP:0007642)4.43039781
20Facial shape deformation (HP:0011334)4.41207982
21Potter facies (HP:0002009)4.41207982
22Hyperglycinemia (HP:0002154)4.35972850
2311 pairs of ribs (HP:0000878)4.34570754
24Abnormal rod and cone electroretinograms (HP:0008323)4.24286545
25Hyperglycinuria (HP:0003108)4.09998154
26Duplicated collecting system (HP:0000081)4.07589195
27Proximal tubulopathy (HP:0000114)4.00931333
28Bony spicule pigmentary retinopathy (HP:0007737)3.88441881
29Type II lissencephaly (HP:0007260)3.84131534
30Generalized hypopigmentation (HP:0007513)3.79496987
31Bicornuate uterus (HP:0000813)3.76351938
32Metaphyseal cupping (HP:0003021)3.69137978
33Vacuolated lymphocytes (HP:0001922)3.67818079
34Albinism (HP:0001022)3.62373690
35Dyschromatopsia (HP:0007641)3.53971674
36Action tremor (HP:0002345)3.53864999
37Hypopigmentation of the fundus (HP:0007894)3.44622521
38Vascular calcification (HP:0004934)3.44290009
39Myocardial infarction (HP:0001658)3.44161157
40Ureteral duplication (HP:0000073)3.35877588
41Abnormality of glycine metabolism (HP:0010895)3.33220384
42Abnormality of serine family amino acid metabolism (HP:0010894)3.33220384
43Pancreatic cysts (HP:0001737)3.31031704
44Cardiovascular calcification (HP:0011915)3.28840161
45Abnormality of the renal collecting system (HP:0004742)3.26919555
46Generalized hypopigmentation of hair (HP:0011358)3.26059280
47Tubulointerstitial fibrosis (HP:0005576)3.25886235
48Abnormality of the calcaneus (HP:0008364)3.23010819
49Aplasia/Hypoplasia affecting the fundus (HP:0008057)3.22451078
50Hand muscle atrophy (HP:0009130)3.21528437
51Breast hypoplasia (HP:0003187)3.14864568
52Hyperventilation (HP:0002883)3.06442893
53Microretrognathia (HP:0000308)3.05567792
54Progressive visual loss (HP:0000529)2.94042872
55Intention tremor (HP:0002080)2.85704946
56Molar tooth sign on MRI (HP:0002419)2.84392290
57Abnormality of midbrain morphology (HP:0002418)2.84392290
58Missing ribs (HP:0000921)2.83587698
59Pancreatic fibrosis (HP:0100732)2.82759277
60Muscle fiber splitting (HP:0003555)2.82115445
61Impulsivity (HP:0100710)2.72369024
62Premature graying of hair (HP:0002216)2.72023052
63Hypophosphatemic rickets (HP:0004912)2.65639414
64True hermaphroditism (HP:0010459)2.64565480
65Abnormality of the labia minora (HP:0012880)2.63226875
66Nephronophthisis (HP:0000090)2.62332318
67Hyperphosphatemia (HP:0002905)2.60674277
68Aplasia/Hypoplasia of the sternum (HP:0006714)2.59267099
69Abnormality of the renal cortex (HP:0011035)2.58663235
70Decreased electroretinogram (ERG) amplitude (HP:0000654)2.56855745
71Facial diplegia (HP:0001349)2.55466581
72Focal segmental glomerulosclerosis (HP:0000097)2.54553638
73Osteomalacia (HP:0002749)2.51578060
74Distal upper limb amyotrophy (HP:0007149)2.48616897
75Upper limb amyotrophy (HP:0009129)2.48616897
76Mutism (HP:0002300)2.47235279
77Abnormal auditory evoked potentials (HP:0006958)2.47167705
78Patellar aplasia (HP:0006443)2.44650175
79Lissencephaly (HP:0001339)2.44423758
80Pendular nystagmus (HP:0012043)2.43557715
81Restlessness (HP:0000711)2.41460924
82Degeneration of the lateral corticospinal tracts (HP:0002314)2.40470519
83Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.40470519
84Inability to walk (HP:0002540)2.38970088
85Decreased central vision (HP:0007663)2.38581167
86Ankle contracture (HP:0006466)2.38098174
87Heterochromia iridis (HP:0001100)2.35684543
88Macular degeneration (HP:0000608)2.33049619
89Abnormality of the renal medulla (HP:0100957)2.31754832
90Aplasia/Hypoplasia of the patella (HP:0006498)2.30798674
91Scotoma (HP:0000575)2.23097841
92Osteolytic defects of the phalanges of the hand (HP:0009771)2.23047042
93Osteolytic defects of the hand bones (HP:0009699)2.23047042
94Gout (HP:0001997)2.22747166
95Retinal dysplasia (HP:0007973)2.21994298
96Medial flaring of the eyebrow (HP:0010747)2.20871089
97Spontaneous abortion (HP:0005268)2.19621797
98Cutaneous melanoma (HP:0012056)2.19595701
99Chorioretinal atrophy (HP:0000533)2.18665227
100Diaphragmatic weakness (HP:0009113)2.15595776
101Thin bony cortex (HP:0002753)2.15319778
102Freckling (HP:0001480)2.14777742
103Large for gestational age (HP:0001520)2.13234461
104Attenuation of retinal blood vessels (HP:0007843)2.11297499
105Shawl scrotum (HP:0000049)2.08911666
106Aplasia of the musculature (HP:0100854)2.08065909
107Poor head control (HP:0002421)2.05626015
108Diastasis recti (HP:0001540)2.05336710
109Atrioventricular block (HP:0001678)2.01781066
110Abnormality of the corticospinal tract (HP:0002492)2.00580313
111Subcapsular cataract (HP:0000523)2.00557979
112Absent radius (HP:0003974)2.00435390
113Stridor (HP:0010307)2.00089122
114Cerebellar dysplasia (HP:0007033)1.99736313
115Birth length less than 3rd percentile (HP:0003561)1.97845122
116Tongue fasciculations (HP:0001308)1.96977916
117Myopathic facies (HP:0002058)1.96451174
118Increased corneal curvature (HP:0100692)1.94313010
119Keratoconus (HP:0000563)1.94313010
120Chromosomal breakage induced by crosslinking agents (HP:0003221)1.93379391
121Glomerulosclerosis (HP:0000096)1.93148775
122Muscle fibrillation (HP:0010546)1.91809669
123Bilateral sensorineural hearing impairment (HP:0008619)1.91108238
124Renal cortical cysts (HP:0000803)1.90749512
125Tubular atrophy (HP:0000092)1.89843775
126Hypoplastic nipples (HP:0002557)1.89197442
127Gait imbalance (HP:0002141)1.89114458
128Insulin-resistant diabetes mellitus (HP:0000831)1.88973947
129Tubulointerstitial abnormality (HP:0001969)1.88721085
130Progressive inability to walk (HP:0002505)1.88636181
131Enlarged penis (HP:0000040)1.88104785
132Clumsiness (HP:0002312)1.87977013
133Congenital primary aphakia (HP:0007707)1.86908145
134Astigmatism (HP:0000483)1.85326052
135Reduced subcutaneous adipose tissue (HP:0003758)1.84908594
136Aplasia involving forearm bones (HP:0009822)1.84688281
137Absent forearm bone (HP:0003953)1.84688281
138Polar cataract (HP:0010696)1.84340288
139Sparse lateral eyebrow (HP:0005338)1.84013621
140Photophobia (HP:0000613)1.81829638
141Horseshoe kidney (HP:0000085)1.79809557
142Stomach cancer (HP:0012126)1.79266509
143Abolished electroretinogram (ERG) (HP:0000550)1.77698331
144Optic nerve hypoplasia (HP:0000609)1.77242721
145Aplasia/Hypoplasia involving the musculature (HP:0001460)1.76261574
146Anterior segment dysgenesis (HP:0007700)1.76085883
147Abnormality of sulfur amino acid metabolism (HP:0004339)1.75883652
148Nephrogenic diabetes insipidus (HP:0009806)1.75323831
149Esophageal varix (HP:0002040)1.75121290
150Aplasia/Hypoplasia of the tibia (HP:0005772)1.74844221
151Increased connective tissue (HP:0009025)1.74347227
152Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.72777632
153Abnormality of pyrimidine metabolism (HP:0004353)1.72694512
154Thin ribs (HP:0000883)1.72043758
155Male infertility (HP:0003251)1.71714778
156Shallow orbits (HP:0000586)1.69542763
157Hypoplasia of the iris (HP:0007676)1.69275329
158Infantile muscular hypotonia (HP:0008947)1.68852030
159Microtia (HP:0008551)1.68744548
160Abnormality of nucleobase metabolism (HP:0010932)1.68541793
161Delayed epiphyseal ossification (HP:0002663)1.68533768
162Cystic liver disease (HP:0006706)1.67167317
163Aortic aneurysm (HP:0004942)1.66690136
164Ankle clonus (HP:0011448)1.66677527
165Chromsome breakage (HP:0040012)1.66506677
166Protruding tongue (HP:0010808)1.65809576
167Abnormality of the pons (HP:0007361)1.63177287
168Congenital, generalized hypertrichosis (HP:0004540)1.61898873
169Mitochondrial inheritance (HP:0001427)1.59465965
170Gaze-evoked nystagmus (HP:0000640)1.59210235
171Abnormality of DNA repair (HP:0003254)1.58904367
172Agitation (HP:0000713)1.58036498
173Broad-based gait (HP:0002136)1.57617587
174Increased CSF lactate (HP:0002490)1.57494310
175Large eyes (HP:0001090)1.56958380
176Acute necrotizing encephalopathy (HP:0006965)1.54578065
177Poor speech (HP:0002465)1.54273227
178Abnormality of glycosphingolipid metabolism (HP:0004343)1.52726589
179Abnormality of glycolipid metabolism (HP:0010969)1.52726589
180Abnormality of liposaccharide metabolism (HP:0010968)1.52726589
181Abnormality of the vitreous humor (HP:0004327)1.52502864
182Fibular hypoplasia (HP:0003038)1.52461898
183Breast aplasia (HP:0100783)1.51173878
184Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.48602928
185Abnormality of alanine metabolism (HP:0010916)1.48602928
186Hyperalaninemia (HP:0003348)1.48602928

Predicted kinase interactions (KEA)

RankGene SetZ-score
1AKT37.77650502
2ACVR1B5.46964658
3BMPR1B4.77693663
4TAOK33.93072117
5LATS13.61194355
6FRK3.38495004
7DAPK23.13447504
8LATS23.05963449
9CASK3.02408126
10BUB12.91922569
11ZAK2.89526285
12ADRBK22.58538922
13INSRR2.53443738
14TIE12.38573219
15MYLK2.38024280
16TTK2.29974471
17MARK32.28264087
18CAMK1D2.19162916
19TGFBR12.07427240
20MAP4K21.97765417
21IRAK31.94636662
22MST41.83034582
23GRK11.69286970
24TLK11.63859800
25STK31.61785934
26LMTK21.60417647
27MAPKAPK31.55086227
28WNK31.54824450
29CAMKK11.54274426
30DDR21.53068721
31PAK21.50658302
32SIK11.48958653
33STK38L1.45984785
34MAPK131.42561451
35NEK11.41452435
36TTN1.38476090
37CAMKK21.37306266
38CAMK1G1.36294381
39BRSK21.36198589
40ADRBK11.36090384
41NEK21.32039575
42BMX1.26369478
43WEE11.24401353
44NEK91.21517582
45CSNK1G21.21413746
46FER1.20704897
47TRIB31.18469782
48FGFR21.16911835
49WNK41.14964604
50PTK2B1.10031024
51PRKCH1.08096237
52PRKCI1.05299341
53CSNK1G31.01009129
54MAP2K60.99115888
55ERBB20.98502787
56RIPK10.98405547
57NUAK10.98280463
58MST1R0.97922506
59STK380.97586866
60MAP2K10.93572541
61PLK20.93521610
62MAP3K60.92995866
63RIPK40.89988558
64CSNK1A1L0.89783265
65PINK10.88496867
66PDK20.88197588
67CSNK1G10.87565939
68MATK0.81812674
69STK100.81488987
70NME10.80286821
71PDK40.79664661
72PDK30.79664661
73ERBB40.79647048
74MAP2K40.78721974
75TNIK0.77557003
76PDGFRA0.77325368
77PAK30.76958816
78ALK0.76060359
79EEF2K0.75527568
80TSSK60.74781497
81PLK10.74227010
82PRKAA20.74221204
83PRKD30.73993635
84AURKB0.72816870
85TXK0.68841485
86GRK60.68802581
87MTOR0.68748706
88TRIM280.68484407
89OXSR10.68229340
90STK390.66924238
91IKBKB0.66611467
92CAMK2A0.65228196
93ERBB30.64971848
94PLK30.64370095
95PRKAA10.64175674
96JAK20.59462097
97CHUK0.59231115
98KIT0.58909604
99DYRK1B0.58849586
100CHEK20.57269874
101PRKCE0.57092778
102MAP2K70.56498860
103MKNK10.56142668
104CDK30.55910124
105PTK20.54881025
106PDPK10.54669920
107PHKG20.54428507
108PHKG10.54428507
109BCKDK0.53606596
110MAP3K20.53560343
111CSNK1A10.51575155
112MUSK0.51360650
113PAK60.50504618
114CAMK40.50309478
115EGFR0.49448628
116DAPK30.47677102
117MAP3K40.47673613
118SIK20.47569357
119MAPKAPK50.47061550
120MAP3K90.46898066
121PAK10.46741274
122JAK10.46109343
123NEK60.46066039
124CAMK10.45724039
125EIF2AK30.44894262
126CDK120.44368477
127MET0.43296834
128MKNK20.43061037
129MAP3K70.41326269
130NTRK20.40777391
131FGFR40.40572278
132CSNK1E0.39399509
133SGK10.38782910
134PRKCG0.38157852
135BRSK10.38091555
136ABL20.37857510
137LRRK20.37093681
138IRAK20.36820427
139PRKACA0.36603768
140PDK10.35888065
141ATR0.35872793
142WNK10.34351798
143TESK20.34331605
144CDK40.33688926
145RPS6KA60.33644845
146DMPK0.33357914
147MAP3K80.33070855
148MAP3K30.32458782
149MAP2K20.31682913
150CCNB10.30889921
151VRK10.30509808
152GRK50.30274864
153CDC42BPA0.29192137
154RPS6KB20.29001660
155CSNK1D0.28764658
156IGF1R0.26847788
157NTRK30.25563285
158CHEK10.24672283
159BCR0.24623125
160PRKCZ0.24474449
161BMPR20.24431308
162MELK0.24017672
163AKT20.22064964
164RET0.21972280
165PRKACB0.21742716

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007506.09217105
2Nitrogen metabolism_Homo sapiens_hsa009103.66322566
3Phototransduction_Homo sapiens_hsa047442.87702364
4Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.84656226
5Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.72827146
6Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.71672995
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.69575197
8Vitamin digestion and absorption_Homo sapiens_hsa049772.68193119
9Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.66740643
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.64658013
11Fatty acid degradation_Homo sapiens_hsa000712.46789457
12PPAR signaling pathway_Homo sapiens_hsa033202.32788374
13Fatty acid metabolism_Homo sapiens_hsa012122.27321795
14Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.16521145
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.15882492
16Prion diseases_Homo sapiens_hsa050202.05933988
17Oxidative phosphorylation_Homo sapiens_hsa001902.02365369
18Glycerolipid metabolism_Homo sapiens_hsa005611.99834594
19Complement and coagulation cascades_Homo sapiens_hsa046101.98627354
20Arginine biosynthesis_Homo sapiens_hsa002201.94778646
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.92162603
22Sulfur metabolism_Homo sapiens_hsa009201.90453137
23Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.88032882
24Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.86983343
25Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.85365821
26Biosynthesis of amino acids_Homo sapiens_hsa012301.85128276
27Fatty acid biosynthesis_Homo sapiens_hsa000611.82601854
28Regulation of autophagy_Homo sapiens_hsa041401.81005773
29Primary bile acid biosynthesis_Homo sapiens_hsa001201.80312954
30Homologous recombination_Homo sapiens_hsa034401.71458418
31Nicotine addiction_Homo sapiens_hsa050331.62169795
32Other glycan degradation_Homo sapiens_hsa005111.59120856
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.57587334
34Protein export_Homo sapiens_hsa030601.52130538
35Tyrosine metabolism_Homo sapiens_hsa003501.49347624
36Caffeine metabolism_Homo sapiens_hsa002321.46766294
37Collecting duct acid secretion_Homo sapiens_hsa049661.45730406
38Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.44790318
39Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42345205
40Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41561151
41Maturity onset diabetes of the young_Homo sapiens_hsa049501.40690418
42Fanconi anemia pathway_Homo sapiens_hsa034601.38163172
43Ether lipid metabolism_Homo sapiens_hsa005651.36486233
44Histidine metabolism_Homo sapiens_hsa003401.33234163
45Parkinsons disease_Homo sapiens_hsa050121.31100410
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.29432202
47Pentose phosphate pathway_Homo sapiens_hsa000301.28454983
48Staphylococcus aureus infection_Homo sapiens_hsa051501.21111024
49Non-homologous end-joining_Homo sapiens_hsa034501.20705904
50Carbon metabolism_Homo sapiens_hsa012001.18857550
51Basal transcription factors_Homo sapiens_hsa030221.18519728
52Steroid hormone biosynthesis_Homo sapiens_hsa001401.17541538
53Glycerophospholipid metabolism_Homo sapiens_hsa005641.16855381
54Morphine addiction_Homo sapiens_hsa050321.13649761
55Salivary secretion_Homo sapiens_hsa049701.11674335
56One carbon pool by folate_Homo sapiens_hsa006701.08935835
57Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.07773307
58Circadian rhythm_Homo sapiens_hsa047101.07451504
59Thyroid hormone synthesis_Homo sapiens_hsa049181.06634120
60Tryptophan metabolism_Homo sapiens_hsa003801.06374332
61Mineral absorption_Homo sapiens_hsa049781.02202913
62Glycosaminoglycan degradation_Homo sapiens_hsa005311.01065770
63Alzheimers disease_Homo sapiens_hsa050100.98844679
64Fatty acid elongation_Homo sapiens_hsa000620.98106877
65Serotonergic synapse_Homo sapiens_hsa047260.97664050
66Protein digestion and absorption_Homo sapiens_hsa049740.96289958
67Butanoate metabolism_Homo sapiens_hsa006500.95767446
68GABAergic synapse_Homo sapiens_hsa047270.95163729
69Fat digestion and absorption_Homo sapiens_hsa049750.94895502
70SNARE interactions in vesicular transport_Homo sapiens_hsa041300.94811145
71Arachidonic acid metabolism_Homo sapiens_hsa005900.94685059
72Retinol metabolism_Homo sapiens_hsa008300.93931453
73Sphingolipid metabolism_Homo sapiens_hsa006000.91452800
74Huntingtons disease_Homo sapiens_hsa050160.90589582
75Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.90039649
76Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.89605827
77beta-Alanine metabolism_Homo sapiens_hsa004100.87205088
78Lysosome_Homo sapiens_hsa041420.86766663
79Phenylalanine metabolism_Homo sapiens_hsa003600.82717194
80Taste transduction_Homo sapiens_hsa047420.80395252
81RNA transport_Homo sapiens_hsa030130.79182155
82Glutathione metabolism_Homo sapiens_hsa004800.78504869
83Arginine and proline metabolism_Homo sapiens_hsa003300.77967738
84Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.77625551
85Olfactory transduction_Homo sapiens_hsa047400.77338599
86RNA degradation_Homo sapiens_hsa030180.76995960
87RNA polymerase_Homo sapiens_hsa030200.76616620
88Bile secretion_Homo sapiens_hsa049760.76534514
89Calcium signaling pathway_Homo sapiens_hsa040200.75677959
90Oocyte meiosis_Homo sapiens_hsa041140.74850703
91Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.73820526
92Intestinal immune network for IgA production_Homo sapiens_hsa046720.70655677
93Propanoate metabolism_Homo sapiens_hsa006400.69524908
94Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.69449320
95Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.69360722
96Circadian entrainment_Homo sapiens_hsa047130.66293961
97ECM-receptor interaction_Homo sapiens_hsa045120.64541598
98Cyanoamino acid metabolism_Homo sapiens_hsa004600.63446146
99Insulin secretion_Homo sapiens_hsa049110.62576662
100Chemical carcinogenesis_Homo sapiens_hsa052040.62250426
101Melanogenesis_Homo sapiens_hsa049160.58857150
102Peroxisome_Homo sapiens_hsa041460.58437261
103Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.57955412
104Cell cycle_Homo sapiens_hsa041100.57400001
105Pentose and glucuronate interconversions_Homo sapiens_hsa000400.55793063
106Glutamatergic synapse_Homo sapiens_hsa047240.55731468
107Adipocytokine signaling pathway_Homo sapiens_hsa049200.54353704
108Selenocompound metabolism_Homo sapiens_hsa004500.54306662
109Ovarian steroidogenesis_Homo sapiens_hsa049130.54060847
110Folate biosynthesis_Homo sapiens_hsa007900.52783670
111Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.51958095
112p53 signaling pathway_Homo sapiens_hsa041150.51655041
113Nucleotide excision repair_Homo sapiens_hsa034200.51059812
114Proteasome_Homo sapiens_hsa030500.50201627
115Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.50147258
116Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48057920
117Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.48050798
118Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.46214801
119Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44740754
120Vascular smooth muscle contraction_Homo sapiens_hsa042700.43917128
121Fructose and mannose metabolism_Homo sapiens_hsa000510.40886790
122Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.40151279
123Cardiac muscle contraction_Homo sapiens_hsa042600.39495989
124Dorso-ventral axis formation_Homo sapiens_hsa043200.38482538
125Starch and sucrose metabolism_Homo sapiens_hsa005000.38451789
126Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.37374700
127Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.37264762
128Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.37076186
129Sulfur relay system_Homo sapiens_hsa041220.36421997
130Purine metabolism_Homo sapiens_hsa002300.34708073
131Linoleic acid metabolism_Homo sapiens_hsa005910.34194611
132* ABC transporters_Homo sapiens_hsa020100.34032815
133Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.33717473
134Type II diabetes mellitus_Homo sapiens_hsa049300.32279097
135Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.31656051
136Rheumatoid arthritis_Homo sapiens_hsa053230.31408789
137AMPK signaling pathway_Homo sapiens_hsa041520.30930279
138Drug metabolism - other enzymes_Homo sapiens_hsa009830.30369047
139Estrogen signaling pathway_Homo sapiens_hsa049150.29178685
140Asthma_Homo sapiens_hsa053100.28867710
141Pyruvate metabolism_Homo sapiens_hsa006200.28809039
142Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.28664404
143Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.26651213
144Insulin resistance_Homo sapiens_hsa049310.26321557
145Metabolic pathways_Homo sapiens_hsa011000.24311303
146Pyrimidine metabolism_Homo sapiens_hsa002400.21873972
147Hedgehog signaling pathway_Homo sapiens_hsa043400.21512960
148Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.20770015
149Choline metabolism in cancer_Homo sapiens_hsa052310.20715012
150Pancreatic secretion_Homo sapiens_hsa049720.20402238
151Tight junction_Homo sapiens_hsa045300.19449990
152Gastric acid secretion_Homo sapiens_hsa049710.17792599
153Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.17542825
154Focal adhesion_Homo sapiens_hsa045100.15735880
155cGMP-PKG signaling pathway_Homo sapiens_hsa040220.14368419

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