SLC19A3

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: This gene encodes a ubiquitously expressed transmembrane thiamine transporter that lacks folate transport activity. Mutations in this gene cause biotin-responsive basal ganglia disease (BBGD); a recessive disorder manifested in childhood that progresses to chronic encephalopathy, dystonia, quadriparesis, and death if untreated. Patients with BBGD have bilateral necrosis in the head of the caudate nucleus and in the putamen. Administration of high doses of biotin in the early progression of the disorder eliminates pathological symptoms while delayed treatment results in residual paraparesis, mild mental retardation, or dystonia. Administration of thiamine is ineffective in the treatment of this disorder. Experiments have failed to show that this protein can transport biotin. Mutations in this gene also cause a Wernicke's-like encephalopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitotic metaphase plate congression (GO:0007080)7.45932882
2metaphase plate congression (GO:0051310)7.29208845
3purine nucleobase biosynthetic process (GO:0009113)6.99423854
4* vitamin transmembrane transport (GO:0035461)6.69274789
5regulation of attachment of spindle microtubules to kinetochore (GO:0051988)6.36736603
6regulation of spindle organization (GO:0090224)5.94369816
7nucleobase biosynthetic process (GO:0046112)5.67168671
8modified amino acid transport (GO:0072337)5.62056979
9ribosome biogenesis (GO:0042254)5.48858229
10folic acid metabolic process (GO:0046655)5.47894083
11folic acid transport (GO:0015884)5.35647794
12regulation of sequestering of triglyceride (GO:0010889)5.28675591
13rRNA modification (GO:0000154)5.19563953
14establishment of chromosome localization (GO:0051303)5.12728602
15lung-associated mesenchyme development (GO:0060484)5.11183091
16transcription from mitochondrial promoter (GO:0006390)4.97278799
17regulation of mitotic spindle organization (GO:0060236)4.88464543
18ribosome assembly (GO:0042255)4.85596146
19rRNA methylation (GO:0031167)4.84504462
20positive regulation of chromosome segregation (GO:0051984)4.72379758
21DNA replication checkpoint (GO:0000076)4.62910039
22regulation of exit from mitosis (GO:0007096)4.61172275
23urate metabolic process (GO:0046415)4.57588645
24regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)4.56289013
25monoubiquitinated protein deubiquitination (GO:0035520)4.52413238
26behavioral response to nicotine (GO:0035095)4.52372360
27negative regulation of fibroblast apoptotic process (GO:2000270)4.46825352
28maturation of 5.8S rRNA (GO:0000460)4.43206095
29termination of RNA polymerase I transcription (GO:0006363)4.42991445
30termination of RNA polymerase III transcription (GO:0006386)4.42519368
31transcription elongation from RNA polymerase III promoter (GO:0006385)4.42519368
32blastocyst development (GO:0001824)4.41283429
33L-fucose catabolic process (GO:0042355)4.39870516
34fucose catabolic process (GO:0019317)4.39870516
35L-fucose metabolic process (GO:0042354)4.39870516
36pantothenate metabolic process (GO:0015939)4.39003253
37triglyceride catabolic process (GO:0019433)4.37711589
38cellular ketone body metabolic process (GO:0046950)4.35301044
39biotin metabolic process (GO:0006768)4.26961797
40transcription from RNA polymerase I promoter (GO:0006360)4.25228699
41centrosome localization (GO:0051642)4.24763016
427-methylguanosine mRNA capping (GO:0006370)4.17004157
437-methylguanosine RNA capping (GO:0009452)4.13272317
44RNA capping (GO:0036260)4.13272317
45transcription initiation from RNA polymerase I promoter (GO:0006361)4.08614616
46drug catabolic process (GO:0042737)4.03273836
47low-density lipoprotein particle clearance (GO:0034383)3.97735446
48serine family amino acid catabolic process (GO:0009071)3.93485927
49indole-containing compound catabolic process (GO:0042436)3.90128051
50indolalkylamine catabolic process (GO:0046218)3.90128051
51tryptophan catabolic process (GO:0006569)3.90128051
52meiosis I (GO:0007127)3.88459280
53transcription elongation from RNA polymerase I promoter (GO:0006362)3.87290985
54ketone body metabolic process (GO:1902224)3.85472731
55acylglycerol catabolic process (GO:0046464)3.82049173
56neutral lipid catabolic process (GO:0046461)3.82049173
57S-adenosylmethionine metabolic process (GO:0046500)3.78640359
58protein localization to kinetochore (GO:0034501)3.78161102
59oocyte maturation (GO:0001556)3.74140598
60UDP-N-acetylglucosamine metabolic process (GO:0006047)3.73823468
61inner cell mass cell proliferation (GO:0001833)3.73338281
62spindle checkpoint (GO:0031577)3.72897447
63negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.72794955
64* vitamin transport (GO:0051180)3.72252640
65GMP metabolic process (GO:0046037)3.71166523
66regulation of chromosome segregation (GO:0051983)3.70020200
67regulation of triglyceride catabolic process (GO:0010896)3.68519107
68protein K6-linked ubiquitination (GO:0085020)3.67519629
69microtubule depolymerization (GO:0007019)3.67121139
70exogenous drug catabolic process (GO:0042738)3.66191763
71peptidyl-threonine dephosphorylation (GO:0035970)3.64664877
72polyamine biosynthetic process (GO:0006596)3.61042317
73cofactor transport (GO:0051181)3.60127770
74positive regulation of vasculogenesis (GO:2001214)3.59480638
75regulation of transcription from RNA polymerase I promoter (GO:0006356)3.51362264
76endothelium development (GO:0003158)3.50970157
77protein localization to chromosome, centromeric region (GO:0071459)3.48469536
78ethanol oxidation (GO:0006069)3.47532836
79positive regulation of cell size (GO:0045793)3.46534766
80male meiosis I (GO:0007141)3.46028056
81kynurenine metabolic process (GO:0070189)3.44991550
82glycerol metabolic process (GO:0006071)3.40220221
83regulation of establishment of cell polarity (GO:2000114)3.36043696
84regulation of G0 to G1 transition (GO:0070316)3.36042136
85mitotic spindle checkpoint (GO:0071174)3.34212557
86fatty acid transmembrane transport (GO:1902001)3.33614382
87neurotransmitter catabolic process (GO:0042135)3.33082168
88CDP-diacylglycerol metabolic process (GO:0046341)3.32670241
89triglyceride homeostasis (GO:0070328)3.30497174
90acylglycerol homeostasis (GO:0055090)3.30497174
91negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.30410051
92DNA-dependent DNA replication (GO:0006261)3.29945718
93indolalkylamine metabolic process (GO:0006586)3.29841033
94ribonucleoprotein complex biogenesis (GO:0022613)3.28777449
95aromatic amino acid family catabolic process (GO:0009074)3.28233366
96negative regulation of macrophage differentiation (GO:0045650)3.26855691
97white fat cell differentiation (GO:0050872)3.26297402
98ventricular cardiac muscle cell development (GO:0055015)3.25071706
99phagocytosis, recognition (GO:0006910)3.24111223
100intestinal epithelial cell development (GO:0060576)3.23571866
101oxidative demethylation (GO:0070989)3.22472740
102transcription elongation from RNA polymerase II promoter (GO:0006368)3.20731971
103DNA-templated transcription, elongation (GO:0006354)3.19179872
104glycine metabolic process (GO:0006544)3.18564705
105glycerolipid catabolic process (GO:0046503)3.16388333
106negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)3.15162267
107detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.13820461
108regulation of meiosis I (GO:0060631)3.13744155
109tryptophan metabolic process (GO:0006568)3.13409903
110diacylglycerol metabolic process (GO:0046339)3.11516491
111response to pheromone (GO:0019236)3.10954135
112ovulation from ovarian follicle (GO:0001542)3.10401404
113positive regulation of glycolytic process (GO:0045821)3.09534130
114regulation of establishment or maintenance of cell polarity (GO:0032878)3.08382578
115mitotic cell cycle arrest (GO:0071850)3.07883748
116transcytosis (GO:0045056)3.07830971
117positive regulation of viral transcription (GO:0050434)3.07352976
118mitotic sister chromatid segregation (GO:0000070)3.07025625
119histone H2A monoubiquitination (GO:0035518)3.06763342
120regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)3.03681452
121positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.00049851
122positive regulation of mitotic sister chromatid separation (GO:1901970)3.00049851
123positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.00049851
124brown fat cell differentiation (GO:0050873)2.99897242
125alditol metabolic process (GO:0019400)2.99221107
126adhesion of symbiont to host (GO:0044406)2.96096834
127regulation of triglyceride biosynthetic process (GO:0010866)2.95030702
128synaptonemal complex assembly (GO:0007130)2.94019764
129negative regulation of response to food (GO:0032096)2.93409886
130negative regulation of appetite (GO:0032099)2.93409886
131response to dietary excess (GO:0002021)2.93035094
132histone H2A ubiquitination (GO:0033522)2.92631326
133negative regulation of chromosome segregation (GO:0051985)2.92208263
134regulation of mitotic metaphase/anaphase transition (GO:0030071)2.91790565
135cellular response to gamma radiation (GO:0071480)2.91298698
136positive regulation of mRNA 3-end processing (GO:0031442)2.90047327
137rRNA processing (GO:0006364)2.89857315
138histone exchange (GO:0043486)2.89627370
139mitotic nuclear envelope disassembly (GO:0007077)2.89156962
140positive regulation of fatty acid oxidation (GO:0046321)2.88814048
141mitochondrial respiratory chain complex I assembly (GO:0032981)2.88792251
142NADH dehydrogenase complex assembly (GO:0010257)2.88792251
143mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.88792251
144arginine metabolic process (GO:0006525)2.88729022
145transcription from RNA polymerase III promoter (GO:0006383)2.88444105
146oogenesis (GO:0048477)2.88118399
147microtubule polymerization or depolymerization (GO:0031109)2.87262423
148response to nitrosative stress (GO:0051409)2.86866581
149attachment of spindle microtubules to kinetochore (GO:0008608)2.85845678
150DNA damage response, signal transduction resulting in transcription (GO:0042772)2.85727779
151regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.85646067
152detection of light stimulus involved in visual perception (GO:0050908)2.81811143
153detection of light stimulus involved in sensory perception (GO:0050962)2.81811143
154phospholipid homeostasis (GO:0055091)2.81457078
155primary alcohol metabolic process (GO:0034308)2.79101307
156positive regulation of glomerulus development (GO:0090193)2.77233655
157estrogen biosynthetic process (GO:0006703)2.75597608
158plasma lipoprotein particle clearance (GO:0034381)2.75475530
159cysteine metabolic process (GO:0006534)2.71039542
160alkaloid metabolic process (GO:0009820)2.70992423
161indole-containing compound metabolic process (GO:0042430)2.70901811
162positive regulation of triglyceride metabolic process (GO:0090208)2.70228009
163sulfation (GO:0051923)2.69675255
164negative regulation of telomere maintenance (GO:0032205)2.69635409
165ethanol metabolic process (GO:0006067)2.69363950
166arginine catabolic process (GO:0006527)2.67487432
167regulation of hippo signaling (GO:0035330)2.66346800
168glyoxylate metabolic process (GO:0046487)2.65549992
169primary amino compound metabolic process (GO:1901160)2.64476063
170valine metabolic process (GO:0006573)2.63757356
171retinol metabolic process (GO:0042572)2.63753267
172positive regulation of triglyceride biosynthetic process (GO:0010867)2.62912806
173drug metabolic process (GO:0017144)2.61678131
174erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.58601846
175L-phenylalanine catabolic process (GO:0006559)2.58601846
176regulation of lipoprotein metabolic process (GO:0050746)2.56044531
177regulation of macrophage derived foam cell differentiation (GO:0010743)2.55088182
178regulation of hexokinase activity (GO:1903299)2.54826040
179regulation of glucokinase activity (GO:0033131)2.54826040
180triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.54231265
181lipid particle organization (GO:0034389)2.53428820
182regulation of triglyceride metabolic process (GO:0090207)2.52988019
183phosphatidylinositol acyl-chain remodeling (GO:0036149)2.50689277
184alanine transport (GO:0032328)2.50237419
185somite development (GO:0061053)2.50073170
186cellular biogenic amine catabolic process (GO:0042402)2.49588339
187amine catabolic process (GO:0009310)2.49588339
188positive regulation of fatty acid metabolic process (GO:0045923)2.49556908
189bile acid metabolic process (GO:0008206)2.48921537
190negative regulation of execution phase of apoptosis (GO:1900118)2.48779029
191water-soluble vitamin biosynthetic process (GO:0042364)2.48720756
192cAMP catabolic process (GO:0006198)2.45748963
193positive regulation of fatty acid transport (GO:2000193)2.42491952
194aromatic amino acid family metabolic process (GO:0009072)2.40631210
195benzene-containing compound metabolic process (GO:0042537)2.40330814
196lipid storage (GO:0019915)2.38374036

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse7.96681186
2FOXM1_23109430_ChIP-Seq_U2OS_Human5.74721403
3CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human4.76239862
4E2F7_22180533_ChIP-Seq_HELA_Human4.59374431
5AR_21909140_ChIP-Seq_LNCAP_Human3.79439247
6CREB1_15753290_ChIP-ChIP_HEK293T_Human3.53496028
7ZNF274_21170338_ChIP-Seq_K562_Hela3.41871385
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse3.39008539
9VDR_22108803_ChIP-Seq_LS180_Human3.35529463
10KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.18127656
11FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human3.17134832
12GBX2_23144817_ChIP-Seq_PC3_Human2.89177893
13KAP1_22055183_ChIP-Seq_ESCs_Mouse2.86774871
14MYC_18555785_ChIP-Seq_MESCs_Mouse2.76053810
15E2F4_17652178_ChIP-ChIP_JURKAT_Human2.68125014
16ZNF263_19887448_ChIP-Seq_K562_Human2.54292716
17JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.47207379
18EZH2_22144423_ChIP-Seq_EOC_Human2.46793321
19GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.37100724
20GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.36282540
21IGF1R_20145208_ChIP-Seq_DFB_Human2.34855338
22KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.31570654
23HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.31292794
24ETS1_20019798_ChIP-Seq_JURKAT_Human2.29452466
25MYC_19079543_ChIP-ChIP_MESCs_Mouse2.28892515
26* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.22226444
27NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.19922842
28NANOG_18555785_ChIP-Seq_MESCs_Mouse2.19380809
29EGR1_23403033_ChIP-Seq_LIVER_Mouse2.17542592
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.14544836
31POU3F2_20337985_ChIP-ChIP_501MEL_Human2.06024457
32CTBP2_25329375_ChIP-Seq_LNCAP_Human1.96192152
33GABP_17652178_ChIP-ChIP_JURKAT_Human1.93145601
34SALL1_21062744_ChIP-ChIP_HESCs_Human1.90930822
35BCAT_22108803_ChIP-Seq_LS180_Human1.89400565
36P300_19829295_ChIP-Seq_ESCs_Human1.87307377
37MYC_19030024_ChIP-ChIP_MESCs_Mouse1.87283291
38PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.86347063
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.84323284
40EWS_26573619_Chip-Seq_HEK293_Human1.79770944
41ER_23166858_ChIP-Seq_MCF-7_Human1.78413813
42TAF15_26573619_Chip-Seq_HEK293_Human1.75812853
43RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75378919
44PIAS1_25552417_ChIP-Seq_VCAP_Human1.74682074
45FUS_26573619_Chip-Seq_HEK293_Human1.74489940
46AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.74350144
47NELFA_20434984_ChIP-Seq_ESCs_Mouse1.71145713
48MYC_18358816_ChIP-ChIP_MESCs_Mouse1.68038838
49VDR_23849224_ChIP-Seq_CD4+_Human1.67926170
50NOTCH1_21737748_ChIP-Seq_TLL_Human1.67608983
51NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.65294133
52E2F1_21310950_ChIP-Seq_MCF-7_Human1.61892384
53EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.61781467
54POU5F1_16153702_ChIP-ChIP_HESCs_Human1.61574558
55CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.60622487
56POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.59138848
57TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.58265620
58UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.58049857
59XRN2_22483619_ChIP-Seq_HELA_Human1.57348473
60MYCN_18555785_ChIP-Seq_MESCs_Mouse1.53891488
61CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52969719
62STAT3_23295773_ChIP-Seq_U87_Human1.48974323
63NR3C1_21868756_ChIP-Seq_MCF10A_Human1.48967353
64TP63_19390658_ChIP-ChIP_HaCaT_Human1.46173121
65BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.45879019
66HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.44929329
67TCF4_22108803_ChIP-Seq_LS180_Human1.44594767
68SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.43327392
69MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.43185560
70AR_25329375_ChIP-Seq_VCAP_Human1.42398791
71CBP_20019798_ChIP-Seq_JUKART_Human1.41908233
72IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.41908233
73FOXA1_27270436_Chip-Seq_PROSTATE_Human1.40444675
74FOXA1_25329375_ChIP-Seq_VCAP_Human1.40444675
75SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.40311300
76PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.39278213
77E2F1_18555785_ChIP-Seq_MESCs_Mouse1.37556244
78* TCF4_23295773_ChIP-Seq_U87_Human1.37339035
79AR_21572438_ChIP-Seq_LNCaP_Human1.37018142
80KLF4_18555785_ChIP-Seq_MESCs_Mouse1.37018129
81TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.35352405
82GABP_19822575_ChIP-Seq_HepG2_Human1.34549147
83STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.34495607
84FOXA1_21572438_ChIP-Seq_LNCaP_Human1.33631895
85SMAD4_21799915_ChIP-Seq_A2780_Human1.33127243
86* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.32350485
87* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.32350485
88EST1_17652178_ChIP-ChIP_JURKAT_Human1.32198204
89POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.32132545
90KDM5A_27292631_Chip-Seq_BREAST_Human1.31724615
91SMAD_19615063_ChIP-ChIP_OVARY_Human1.30612153
92IRF1_19129219_ChIP-ChIP_H3396_Human1.29482613
93NANOG_19829295_ChIP-Seq_ESCs_Human1.29365801
94SOX2_19829295_ChIP-Seq_ESCs_Human1.29365801
95GATA3_21878914_ChIP-Seq_MCF-7_Human1.29209323
96BMI1_23680149_ChIP-Seq_NPCS_Mouse1.28199705
97* KAP1_27257070_Chip-Seq_ESCs_Mouse1.27592660
98TP53_22573176_ChIP-Seq_HFKS_Human1.27485676
99AR_20517297_ChIP-Seq_VCAP_Human1.26416670
100* NANOG_21062744_ChIP-ChIP_HESCs_Human1.24720790
101EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.24609426
102PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23891281
103TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22959560
104MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.22294860
105CBX2_27304074_Chip-Seq_ESCs_Mouse1.21902675
106MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.19781279
107SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19297369
108LXR_22158963_ChIP-Seq_LIVER_Mouse1.18837866
109SMAD4_21741376_ChIP-Seq_EPCs_Human1.18703318
110SMAD3_21741376_ChIP-Seq_EPCs_Human1.18469287
111RUNX2_22187159_ChIP-Seq_PCA_Human1.18414968
112FOXP3_21729870_ChIP-Seq_TREG_Human1.16127339
113GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.15971276
114CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.15352249
115ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.15245797
116KLF5_20875108_ChIP-Seq_MESCs_Mouse1.13991561
117TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.13612712
118ETV2_25802403_ChIP-Seq_MESCs_Mouse1.13490662
119SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.12528791
120ELK1_22589737_ChIP-Seq_MCF10A_Human1.12517961
121* EZH2_27294783_Chip-Seq_NPCs_Mouse1.12474443
122* PCGF2_27294783_Chip-Seq_ESCs_Mouse1.10293933
123EED_16625203_ChIP-ChIP_MESCs_Mouse1.09934231
124PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.09428534
125* NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.09371653
126NCOR_22424771_ChIP-Seq_293T_Human1.08278852
127FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08254192
128ERA_21632823_ChIP-Seq_H3396_Human1.07104356
129AHR_22903824_ChIP-Seq_MCF-7_Human1.05906170
130HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.05525160
131HOXB7_26014856_ChIP-Seq_BT474_Human1.04888965
132* FLI1_27457419_Chip-Seq_LIVER_Mouse1.04080195
133FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.03133328
134REST_21632747_ChIP-Seq_MESCs_Mouse1.02998943
135CLOCK_20551151_ChIP-Seq_293T_Human1.02721480
136PRDM14_20953172_ChIP-Seq_ESCs_Human1.01833880
137CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.01661858
138OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00486721
139* NFE2_27457419_Chip-Seq_LIVER_Mouse0.99923768
140PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.99815271
141* CRX_20693478_ChIP-Seq_RETINA_Mouse0.99621285
142* SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99586013
143SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.97773908
144GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.97299218
145ARNT_22903824_ChIP-Seq_MCF-7_Human0.96441217
146SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.95832345
147TBL1_22424771_ChIP-Seq_293T_Human0.94991586
148PHF8_20622853_ChIP-Seq_HELA_Human0.94900224
149* PCGF2_27294783_Chip-Seq_NPCs_Mouse0.94708627
150CDX2_19796622_ChIP-Seq_MESCs_Mouse0.94466609
151CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.94448594
152GATA1_22025678_ChIP-Seq_K562_Human0.94239596
153RXR_22158963_ChIP-Seq_LIVER_Mouse0.93847129
154ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.93767559
155SALL4_18804426_ChIP-ChIP_XEN_Mouse0.93140664
156EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.93006285
157FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.90016104
158* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.89355351
159NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.88809807
160STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.88775926
161RUNX1_26923725_Chip-Seq_HPCs_Mouse0.88741475
162ESR2_21235772_ChIP-Seq_MCF-7_Human0.88127333
163TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.87865454
164STAT3_1855785_ChIP-Seq_MESCs_Mouse0.87741283
165TTF2_22483619_ChIP-Seq_HELA_Human0.86396477
166NANOG_18692474_ChIP-Seq_MESCs_Mouse0.85970102
167* SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.85802632
168ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.84362297
169NANOG_18692474_ChIP-Seq_MEFs_Mouse0.82981725
170PADI4_21655091_ChIP-ChIP_MCF-7_Human0.82310830
171TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse0.82302473
172* TCF3_18692474_ChIP-Seq_MESCs_Mouse0.82134168
173YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.81181604
174TCF3_18692474_ChIP-Seq_MEFs_Mouse0.80610357
175FOXH1_21741376_ChIP-Seq_EPCs_Human0.79001781
176SOX2_18555785_ChIP-Seq_MESCs_Mouse0.78806816
177SOX17_20123909_ChIP-Seq_XEN_Mouse0.78051903
178AUTS2_25519132_ChIP-Seq_293T-REX_Human0.77011219
179BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.76903730
180LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.73956283
181* POU5F1_18692474_ChIP-Seq_MESCs_Mouse0.73877350
182CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.73234541
183CDX2_22108803_ChIP-Seq_LS180_Human0.72572707
184EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.72296574
185GATA1_26923725_Chip-Seq_HPCs_Mouse0.72246760
186ELK1_19687146_ChIP-ChIP_HELA_Human0.71952764
187YY1_21170310_ChIP-Seq_MESCs_Mouse0.71598656
188SRF_21415370_ChIP-Seq_HL-1_Mouse0.70860371
189SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.69760173
190PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.69414906
191SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.69394685
192ATF3_27146783_Chip-Seq_COLON_Human0.69227617

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching5.53708081
2MP0003718_maternal_effect5.48095993
3MP0005670_abnormal_white_adipose4.84469705
4MP0003195_calcinosis4.20544782
5MP0003111_abnormal_nucleus_morphology3.95302291
6MP0002876_abnormal_thyroid_physiology3.77944054
7MP0004130_abnormal_muscle_cell3.28268930
8MP0005377_hearing/vestibular/ear_phenot3.00083337
9MP0003878_abnormal_ear_physiology3.00083337
10MP0003077_abnormal_cell_cycle2.83306444
11MP0010094_abnormal_chromosome_stability2.78042927
12MP0010329_abnormal_lipoprotein_level2.77396827
13MP0008875_abnormal_xenobiotic_pharmacok2.74388431
14MP0004957_abnormal_blastocyst_morpholog2.64954169
15MP0008057_abnormal_DNA_replication2.64782812
16MP0003011_delayed_dark_adaptation2.64156276
17MP0005167_abnormal_blood-brain_barrier2.60855929
18MP0002971_abnormal_brown_adipose2.59905555
19MP0008007_abnormal_cellular_replicative2.59207334
20MP0005451_abnormal_body_composition2.52308721
21MP0003123_paternal_imprinting2.49682064
22MP0003136_yellow_coat_color2.35881297
23MP0002009_preneoplasia2.34085990
24MP0002653_abnormal_ependyma_morphology2.33947975
25MP0001730_embryonic_growth_arrest2.33849180
26MP0002638_abnormal_pupillary_reflex2.28454271
27MP0005666_abnormal_adipose_tissue2.19472041
28MP0005551_abnormal_eye_electrophysiolog2.16232863
29MP0005085_abnormal_gallbladder_physiolo2.15519421
30MP0003221_abnormal_cardiomyocyte_apopto2.11213116
31MP0008260_abnormal_autophagy2.10398733
32MP0008058_abnormal_DNA_repair1.99300289
33MP0009115_abnormal_fat_cell1.92138967
34MP0005379_endocrine/exocrine_gland_phen1.91860047
35MP0009840_abnormal_foam_cell1.89344197
36MP0004147_increased_porphyrin_level1.87125020
37MP0001501_abnormal_sleep_pattern1.84481489
38MP0010368_abnormal_lymphatic_system1.82944719
39MP0003959_abnormal_lean_body1.81641976
40MP0005084_abnormal_gallbladder_morpholo1.79682235
41MP0001672_abnormal_embryogenesis/_devel1.77585551
42MP0005380_embryogenesis_phenotype1.77585551
43MP0003786_premature_aging1.74613496
44MP0004885_abnormal_endolymph1.74591659
45MP0005395_other_phenotype1.66855770
46MP0006276_abnormal_autonomic_nervous1.64309802
47MP0005408_hypopigmentation1.63923676
48MP0002102_abnormal_ear_morphology1.62347967
49MP0002118_abnormal_lipid_homeostasis1.62305336
50MP0005448_abnormal_energy_balance1.61128705
51MP0010307_abnormal_tumor_latency1.59981969
52MP0005334_abnormal_fat_pad1.59277591
53MP0001661_extended_life_span1.56552662
54MP0002396_abnormal_hematopoietic_system1.56245360
55MP0003938_abnormal_ear_development1.55959977
56MP0008872_abnormal_physiological_respon1.54723113
57MP0002909_abnormal_adrenal_gland1.54537112
58MP0005375_adipose_tissue_phenotype1.53431571
59MP0004043_abnormal_pH_regulation1.51421691
60MP0003868_abnormal_feces_composition1.49090952
61MP0005535_abnormal_body_temperature1.48514159
62MP0003984_embryonic_growth_retardation1.45720302
63MP0009333_abnormal_splenocyte_physiolog1.45545472
64MP0000350_abnormal_cell_proliferation1.45160381
65MP0002138_abnormal_hepatobiliary_system1.44876518
66MP0006138_congestive_heart_failure1.44559006
67MP0005360_urolithiasis1.42466294
68MP0003879_abnormal_hair_cell1.40666727
69MP0003186_abnormal_redox_activity1.39663287
70MP0002088_abnormal_embryonic_growth/wei1.38710206
71MP0002938_white_spotting1.36732599
72MP0009697_abnormal_copulation1.36455352
73MP0004084_abnormal_cardiac_muscle1.36386698
74MP0008877_abnormal_DNA_methylation1.34786097
75MP0003941_abnormal_skin_development1.33985782
76MP0002970_abnormal_white_adipose1.33331631
77MP0002210_abnormal_sex_determination1.32712679
78MP0002163_abnormal_gland_morphology1.31969196
79MP0008932_abnormal_embryonic_tissue1.30626218
80MP0001756_abnormal_urination1.28851273
81MP0008995_early_reproductive_senescence1.28121057
82MP0003252_abnormal_bile_duct1.27989060
83MP0005645_abnormal_hypothalamus_physiol1.27373692
84MP0004019_abnormal_vitamin_homeostasis1.25163859
85MP0002132_abnormal_respiratory_system1.24827619
86MP0004215_abnormal_myocardial_fiber1.24798209
87MP0003937_abnormal_limbs/digits/tail_de1.24718708
88MP0003828_pulmonary_edema1.23767292
89MP0005332_abnormal_amino_acid1.23599685
90MP0004484_altered_response_of1.23538799
91MP0001697_abnormal_embryo_size1.22664926
92MP0005365_abnormal_bile_salt1.21348726
93MP0001485_abnormal_pinna_reflex1.20183437
94MP0001968_abnormal_touch/_nociception1.18351860
95MP0001542_abnormal_bone_strength1.18198507
96MP0009745_abnormal_behavioral_response1.17410873
97MP0001929_abnormal_gametogenesis1.16828855
98MP0009046_muscle_twitch1.16742706
99MP0001986_abnormal_taste_sensitivity1.16688434
100MP0005253_abnormal_eye_physiology1.15599409
101MP0005647_abnormal_sex_gland1.15222216
102MP0000653_abnormal_sex_gland1.14698141
103MP0000230_abnormal_systemic_arterial1.13794022
104MP0002127_abnormal_cardiovascular_syste1.13681802
105MP0003699_abnormal_female_reproductive1.13181043
106MP0001145_abnormal_male_reproductive1.12702081
107MP0009672_abnormal_birth_weight1.12383600
108MP0003315_abnormal_perineum_morphology1.10472429
109MP0003283_abnormal_digestive_organ1.07626818
110MP0002086_abnormal_extraembryonic_tissu1.05758861
111MP0006292_abnormal_olfactory_placode1.05732339
112MP0002080_prenatal_lethality1.05365742
113MP0001188_hyperpigmentation1.03748793
114MP0001545_abnormal_hematopoietic_system1.03104475
115MP0005397_hematopoietic_system_phenotyp1.03104475
116MP0002736_abnormal_nociception_after1.02690787
117MP0005386_behavior/neurological_phenoty1.01928759
118MP0004924_abnormal_behavior1.01928759
119MP0000427_abnormal_hair_cycle1.01702349
120MP0002078_abnormal_glucose_homeostasis0.99395222
121MP0002085_abnormal_embryonic_tissue0.99260754
122MP0008775_abnormal_heart_ventricle0.97955898
123MP0004142_abnormal_muscle_tone0.97229032
124MP0001119_abnormal_female_reproductive0.96827944
125MP0005452_abnormal_adipose_tissue0.96801441
126MP0003646_muscle_fatigue0.96043847
127MP0004133_heterotaxia0.94382679
128MP0003724_increased_susceptibility_to0.94143554
129MP0002272_abnormal_nervous_system0.92875291
130MP0009643_abnormal_urine_homeostasis0.91715561
131MP0005595_abnormal_vascular_smooth0.91615997
132MP0003950_abnormal_plasma_membrane0.91523794
133MP0002136_abnormal_kidney_physiology0.91152818
134MP0000372_irregular_coat_pigmentation0.90692296
135MP0002084_abnormal_developmental_patter0.90658136
136MP0003953_abnormal_hormone_level0.88171207
137MP0002733_abnormal_thermal_nociception0.87619358
138MP0002837_dystrophic_cardiac_calcinosis0.87514038
139MP0005503_abnormal_tendon_morphology0.87064045
140MP0005310_abnormal_salivary_gland0.85420358
141MP0001879_abnormal_lymphatic_vessel0.84994428
142MP0005636_abnormal_mineral_homeostasis0.82119580
143MP0004883_abnormal_blood_vessel0.81842829
144MP0005646_abnormal_pituitary_gland0.81753513
145MP0000750_abnormal_muscle_regeneration0.81328483
146MP0006036_abnormal_mitochondrial_physio0.80230710
147MP0002160_abnormal_reproductive_system0.78171782
148MP0005195_abnormal_posterior_eye0.77831625
149MP0004742_abnormal_vestibular_system0.77621144
150MP0001486_abnormal_startle_reflex0.76617785
151MP0003567_abnormal_fetal_cardiomyocyte0.76537624
152MP0000003_abnormal_adipose_tissue0.76114155
153MP0001984_abnormal_olfaction0.74248665
154MP0005174_abnormal_tail_pigmentation0.74243389
155MP0000631_abnormal_neuroendocrine_gland0.73951913
156MP0003137_abnormal_impulse_conducting0.73730799
157MP0004264_abnormal_extraembryonic_tissu0.73009440
158MP0004185_abnormal_adipocyte_glucose0.72246428
159MP0004145_abnormal_muscle_electrophysio0.70568392
160MP0001944_abnormal_pancreas_morphology0.70486999
161MP0009780_abnormal_chondrocyte_physiolo0.69824361
162MP0002139_abnormal_hepatobiliary_system0.69392818
163MP0001970_abnormal_pain_threshold0.68268058
164MP0002161_abnormal_fertility/fecundity0.68003172
165MP0001293_anophthalmia0.67577384
166MP0005187_abnormal_penis_morphology0.67064096
167MP0002092_abnormal_eye_morphology0.66826398
168MP0000462_abnormal_digestive_system0.66072084
169MP0000432_abnormal_head_morphology0.64544267
170MP0005330_cardiomyopathy0.64481957
171MP0004808_abnormal_hematopoietic_stem0.64235546
172MP0003656_abnormal_erythrocyte_physiolo0.63075184
173MP0001905_abnormal_dopamine_level0.59866902
174MP0001764_abnormal_homeostasis0.59579715
175MP0000313_abnormal_cell_death0.59170693
176MP0005621_abnormal_cell_physiology0.58780863
177MP0000609_abnormal_liver_physiology0.58161363

Predicted human phenotypes

RankGene SetZ-score
1Hyperglycinemia (HP:0002154)6.19203551
2Gout (HP:0001997)5.66458679
3Hyperglycinuria (HP:0003108)5.44796889
4Carpal bone hypoplasia (HP:0001498)5.25824825
5Birth length less than 3rd percentile (HP:0003561)4.75551101
6Breast hypoplasia (HP:0003187)4.70148330
7Pancreatic cysts (HP:0001737)4.53473554
8Abnormality of alanine metabolism (HP:0010916)4.33665711
9Hyperalaninemia (HP:0003348)4.33665711
10Abnormality of pyruvate family amino acid metabolism (HP:0010915)4.33665711
11Impulsivity (HP:0100710)4.30264956
12Abnormality of glycine metabolism (HP:0010895)4.30095225
13Abnormality of serine family amino acid metabolism (HP:0010894)4.30095225
14Adactyly (HP:0009776)4.10691580
15Small epiphyses (HP:0010585)4.06277973
16Aplasia/Hypoplasia involving the carpal bones (HP:0006502)4.05613225
17Flat capital femoral epiphysis (HP:0003370)4.00867286
18Irregular epiphyses (HP:0010582)3.99601605
19Absent hand (HP:0004050)3.97221443
20Molar tooth sign on MRI (HP:0002419)3.58791887
21Abnormality of midbrain morphology (HP:0002418)3.58791887
22Pancreatic fibrosis (HP:0100732)3.57700439
23Capillary hemangiomas (HP:0005306)3.46763487
24True hermaphroditism (HP:0010459)3.45328728
25Rough bone trabeculation (HP:0100670)3.44044681
26Delayed epiphyseal ossification (HP:0002663)3.42762593
27Tetraplegia (HP:0002445)3.41244178
28Abnormality of the renal cortex (HP:0011035)3.40917268
29Hyperuricemia (HP:0002149)3.40298403
30Increased purine levels (HP:0004368)3.40298403
31Congenital stationary night blindness (HP:0007642)3.39950357
32Congenital, generalized hypertrichosis (HP:0004540)3.39681365
33Muscle fiber splitting (HP:0003555)3.36357924
34Entropion (HP:0000621)3.33952148
35Alopecia of scalp (HP:0002293)3.23766708
36Patellar aplasia (HP:0006443)3.23377488
37Aplasia/Hypoplasia of the patella (HP:0006498)3.19096017
38Decreased central vision (HP:0007663)3.17229098
39Oligomenorrhea (HP:0000876)3.13761213
40Duplicated collecting system (HP:0000081)3.10733850
41Nephronophthisis (HP:0000090)3.09696652
42Type II lissencephaly (HP:0007260)3.08815822
43Atrioventricular block (HP:0001678)2.96690468
44Abnormality of the proximal phalanges of the hand (HP:0009834)2.94195149
45Cerebral hypomyelination (HP:0006808)2.93031618
46Hyperventilation (HP:0002883)2.88654784
47Abnormality of the renal collecting system (HP:0004742)2.88650743
48Facial hemangioma (HP:0000329)2.86953457
49Segmental peripheral demyelination/remyelination (HP:0003481)2.82954580
50Pustule (HP:0200039)2.80140044
51Pendular nystagmus (HP:0012043)2.79634192
52Renal cortical cysts (HP:0000803)2.78961841
53Hypoplasia of the capital femoral epiphysis (HP:0003090)2.77945493
54Abnormal trabecular bone morphology (HP:0100671)2.71249104
55Cystic liver disease (HP:0006706)2.70646086
56Abnormality of serum amino acid levels (HP:0003112)2.68583608
57Attenuation of retinal blood vessels (HP:0007843)2.68430167
58Abolished electroretinogram (ERG) (HP:0000550)2.68001798
59Tubular atrophy (HP:0000092)2.67392192
60Absent epiphyses (HP:0010577)2.67019848
61Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.67019848
62Stenosis of the external auditory canal (HP:0000402)2.66621903
63Prostate neoplasm (HP:0100787)2.65221328
64Abnormality of the renal medulla (HP:0100957)2.65015705
65Abnormality of the labia minora (HP:0012880)2.59709332
66Stillbirth (HP:0003826)2.59606587
67Progressive inability to walk (HP:0002505)2.58127190
68Glossoptosis (HP:0000162)2.56997049
69Abnormal spermatogenesis (HP:0008669)2.55656119
70Bundle branch block (HP:0011710)2.55365147
71Chronic hepatic failure (HP:0100626)2.55304491
72Aplasia/Hypoplasia involving the musculature (HP:0001460)2.53677165
73Abnormal biliary tract physiology (HP:0012439)2.52210304
74Bile duct proliferation (HP:0001408)2.52210304
75Shawl scrotum (HP:0000049)2.52175803
76Sparse eyelashes (HP:0000653)2.51841347
77Oligodactyly (hands) (HP:0001180)2.48520893
78Azoospermia (HP:0000027)2.47805305
79Pigmentary retinal degeneration (HP:0001146)2.45712204
80Hyperlipoproteinemia (HP:0010980)2.45426084
81* Inability to walk (HP:0002540)2.45162861
82Increased corneal curvature (HP:0100692)2.43315321
83Keratoconus (HP:0000563)2.43315321
84Death in infancy (HP:0001522)2.42769041
85Sparse lateral eyebrow (HP:0005338)2.42189137
86Concave nail (HP:0001598)2.40780261
87Polydipsia (HP:0001959)2.39533840
88Abnormal drinking behavior (HP:0030082)2.39533840
89Clumsiness (HP:0002312)2.38431983
90Prominent supraorbital ridges (HP:0000336)2.37783523
91Epidermoid cyst (HP:0200040)2.35694916
92Chromosomal breakage induced by crosslinking agents (HP:0003221)2.34764121
93Male infertility (HP:0003251)2.34738800
94Large for gestational age (HP:0001520)2.34162553
95Progressive muscle weakness (HP:0003323)2.33399902
96Ventricular fibrillation (HP:0001663)2.32045614
97Abnormality of the distal phalanges of the toes (HP:0010182)2.31279348
98Enlarged penis (HP:0000040)2.30290384
99Reduced subcutaneous adipose tissue (HP:0003758)2.30250619
100Congenital sensorineural hearing impairment (HP:0008527)2.28153173
101Abnormal rod and cone electroretinograms (HP:0008323)2.27275541
102Genu varum (HP:0002970)2.27127847
103Ileus (HP:0002595)2.26529465
104Medial flaring of the eyebrow (HP:0010747)2.24741361
105Metaphyseal cupping (HP:0003021)2.22774852
106Absent rod-and cone-mediated responses on ERG (HP:0007688)2.22399999
107Insulin-resistant diabetes mellitus (HP:0000831)2.22112947
108Restlessness (HP:0000711)2.19279758
109Hyperglycemia (HP:0003074)2.18884015
110Abnormality of purine metabolism (HP:0004352)2.18489010
111Ureteral duplication (HP:0000073)2.17318358
112Premature rupture of membranes (HP:0001788)2.17238690
113Ketosis (HP:0001946)2.17148578
114Areflexia of lower limbs (HP:0002522)2.17140668
115Abnormality of the hepatic vasculature (HP:0006707)2.15867417
116Glucose intolerance (HP:0000833)2.14374960
117Adrenal hypoplasia (HP:0000835)2.13825381
118Abnormality of the epiphysis of the femoral head (HP:0010574)2.13596561
119Pancreatic islet-cell hyperplasia (HP:0004510)2.12063313
120Polyphagia (HP:0002591)2.11045504
121Breast aplasia (HP:0100783)2.10470945
122Gaze-evoked nystagmus (HP:0000640)2.10157244
123Absent radius (HP:0003974)2.09241549
124Thick nail (HP:0001805)2.09217921
125Decreased circulating renin level (HP:0003351)2.08265434
126CNS hypomyelination (HP:0003429)2.07709388
127Decreased electroretinogram (ERG) amplitude (HP:0000654)2.07006588
128Aplasia/Hypoplasia of the tibia (HP:0005772)2.06711384
129Secondary amenorrhea (HP:0000869)2.05983129
130Abnormality of femoral epiphyses (HP:0006499)2.04520263
131Abnormality involving the epiphyses of the lower limbs (HP:0006500)2.04520263
132Aplasia/Hypoplasia of the breasts (HP:0010311)2.04351322
133Furrowed tongue (HP:0000221)2.02729852
134Abnormality of the preputium (HP:0100587)2.01344634
135Abnormality of the femoral head (HP:0003368)2.00806382
136Short nail (HP:0001799)1.97323004
137Multiple enchondromatosis (HP:0005701)1.96118095
138Polyuria (HP:0000103)1.95775790
139Oligodactyly (HP:0012165)1.95766585
140Aplasia involving forearm bones (HP:0009822)1.95117795
141Absent forearm bone (HP:0003953)1.95117795
142Chromsome breakage (HP:0040012)1.94669309
143Sclerocornea (HP:0000647)1.94439041
144Genetic anticipation (HP:0003743)1.93792362
145Heart block (HP:0012722)1.93714056
146Cerebellar dysplasia (HP:0007033)1.93687779
147Congenital hepatic fibrosis (HP:0002612)1.92493852
148Submucous cleft hard palate (HP:0000176)1.91480849
149Progressive cerebellar ataxia (HP:0002073)1.90776546
150Hypophosphatemic rickets (HP:0004912)1.88803529
151Abnormality of pyrimidine metabolism (HP:0004353)1.88760321
152Osteolytic defects of the phalanges of the hand (HP:0009771)1.87366997
153Osteolytic defects of the hand bones (HP:0009699)1.87366997
154Hypoglycemic coma (HP:0001325)1.86421012
155Generalized aminoaciduria (HP:0002909)1.86408845
156Stomach cancer (HP:0012126)1.86006178
157Delayed CNS myelination (HP:0002188)1.85734531
158Abnormal urine output (HP:0012590)1.85068891
159Pachygyria (HP:0001302)1.84426009
160Abnormality of chromosome stability (HP:0003220)1.83754614
161Metaphyseal irregularity (HP:0003025)1.83673489
162Nausea (HP:0002018)1.83150324
163Macular degeneration (HP:0000608)1.82812249
164Polycythemia (HP:0001901)1.82719260
165Abnormality of glutamine family amino acid metabolism (HP:0010902)1.82664147
166Dynein arm defect of respiratory motile cilia (HP:0012255)1.82497725
167Absent/shortened dynein arms (HP:0200106)1.82497725
168Short middle phalanx of the 5th finger (HP:0004220)1.82403157
169Tachypnea (HP:0002789)1.82368499
170Ketoacidosis (HP:0001993)1.81903298
171Hypoplastic toenails (HP:0001800)1.81119032
172Hydroxyprolinuria (HP:0003080)1.80556496
173Abnormality of proline metabolism (HP:0010907)1.80556496
174Abnormal atrioventricular conduction (HP:0005150)1.80056052
175Meckel diverticulum (HP:0002245)1.78981715
176Prolonged partial thromboplastin time (HP:0003645)1.78742597
177Chorioretinal atrophy (HP:0000533)1.78710594
178Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.77908466
179Genital tract atresia (HP:0001827)1.75298786
180Gait imbalance (HP:0002141)1.75017976
181Male pseudohermaphroditism (HP:0000037)1.73716659
182Anencephaly (HP:0002323)1.73548249
183Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.73417765
184Abnormal eating behavior (HP:0100738)1.73230805
185Congenital primary aphakia (HP:0007707)1.72899409
186Aplasia/Hypoplasia of the tongue (HP:0010295)1.72791256
187Proximal tubulopathy (HP:0000114)1.72191786
188Vaginal atresia (HP:0000148)1.70862616
189Optic nerve hypoplasia (HP:0000609)1.70615404
190Postaxial foot polydactyly (HP:0001830)1.70321627
191Bulbous nose (HP:0000414)1.69437594
192Aplasia/Hypoplasia of the uvula (HP:0010293)1.68881330
193Broad-based gait (HP:0002136)1.68785380

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BUB15.14620168
2PDK24.16368510
3ADRBK24.11199699
4WEE13.16715290
5IRAK33.02100468
6AKT32.97230354
7GRK12.94915922
8PLK42.94418285
9TAOK32.93820656
10BMPR1B2.91388725
11BRSK22.77553262
12NEK22.74952119
13LATS22.70211205
14MKNK22.33926826
15MKNK12.26280991
16STK38L2.22983947
17BCKDK2.15137371
18INSRR2.12294849
19NEK62.04745408
20MAP4K22.03435057
21NUAK12.03327307
22EIF2AK12.02074542
23DAPK22.01892426
24PINK11.96371414
25CASK1.94720896
26TLK11.92353755
27BRSK11.83463935
28PLK31.78542110
29LATS11.78268745
30TTK1.77259397
31TXK1.75826399
32STK31.75043396
33DYRK31.71352855
34PLK11.67398489
35ADRBK11.57608716
36MAPK131.55972864
37ACVR1B1.52793085
38CAMKK21.47854663
39CCNB11.44147974
40WNK31.40905195
41EIF2AK31.40412496
42CAMK11.38152454
43CHEK21.32835839
44CDK81.31966630
45AURKB1.31436214
46CDK31.27825269
47MAPKAPK31.19498752
48VRK21.16990394
49TIE11.16407946
50CDC71.13330089
51TAOK11.12476139
52PRKCI1.11682764
53SRPK11.10493811
54TNIK1.10083576
55EPHB21.08837607
56NLK1.08269438
57TGFBR11.08197979
58KDR1.07991105
59MAP3K41.07704510
60PIK3CA1.07008722
61PRKAA11.06515559
62OXSR11.06083178
63BLK1.03191341
64CSNK1G30.99449442
65GRK50.95558836
66MUSK0.95412200
67ALK0.95238844
68PRKCE0.94477226
69MARK30.91836950
70CSNK1G10.90093353
71RPS6KA40.87713128
72NEK10.87566050
73CSNK1A1L0.86387222
74PAK60.84354718
75EPHA30.81452750
76PRKAA20.80970414
77PDK40.80852360
78PDK30.80852360
79ZAK0.79549636
80CDK70.77667791
81CSNK1G20.77385962
82CHEK10.76336256
83PKN10.75974437
84PRKCG0.75395094
85NME10.75184350
86MAP2K10.72270145
87NME20.69542556
88AURKA0.66930869
89MAP2K20.66661332
90PRKG20.65793143
91VRK10.64339630
92PHKG20.63968480
93PHKG10.63968480
94NTRK30.63798996
95EIF2AK20.62303754
96BRAF0.61422329
97TSSK60.60886550
98STK240.58704035
99IGF1R0.58212299
100MARK10.57041604
101MYLK0.56880169
102KSR20.55346870
103CAMK40.54746340
104CAMK1D0.54394012
105ABL20.54070744
106MAPK120.53949145
107EPHA40.53073095
108PRKCQ0.53030865
109SGK20.53010979
110PRKACA0.51721620
111MAPK70.51553622
112PRKG10.50473452
113IKBKB0.49768131
114CAMK2A0.49692372
115FER0.49026225
116MAPKAPK50.48572475
117STK380.47880453
118AKT20.47797294
119PRKACG0.47731109
120CDK20.47573052
121CDK40.47030847
122RIPK40.46691361
123NEK90.46499484
124MAP2K60.45867305
125PRKCZ0.45191432
126RPS6KA50.44935059
127TEC0.44691965
128MAP3K30.44501477
129MAPK110.44344726
130MELK0.43306584
131TRPM70.43172376
132KIT0.42546499
133CDK10.41709381
134RAF10.41412904
135PIM10.40631276
136FGR0.39200760
137MAP3K90.38787299
138MAP2K70.38068071
139PAK10.37474376
140YES10.37401200
141STK110.37398241
142ATM0.36297773
143SGK4940.36131016
144SGK2230.36131016
145DYRK20.35166946
146PDPK10.34463747
147ERBB20.33929272
148TRIM280.33220142
149ARAF0.32566991
150STK390.32440247
151PAK30.31940997
152MAPK150.31859965
153DDR20.31610700
154PDGFRB0.31427644
155PRKCA0.31223729
156MAPK100.31189510
157PIM20.31175453
158FRK0.31058600
159MAP3K70.30790611
160MAP3K80.30042157
161PTK2B0.30033211
162CSNK1A10.29140388
163MAP3K60.27964506
164WNK40.27043129
165MAPK90.26404576

Predicted pathways (KEGG)

RankGene SetZ-score
1Vitamin B6 metabolism_Homo sapiens_hsa007508.89773950
2RNA polymerase_Homo sapiens_hsa030204.89245689
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030084.69421712
4* Vitamin digestion and absorption_Homo sapiens_hsa049773.28115787
5Folate biosynthesis_Homo sapiens_hsa007903.07806928
6RNA transport_Homo sapiens_hsa030132.73088890
7Tryptophan metabolism_Homo sapiens_hsa003802.66967684
8Cell cycle_Homo sapiens_hsa041102.54861346
9Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.45387527
10Basal transcription factors_Homo sapiens_hsa030222.38562767
11Primary bile acid biosynthesis_Homo sapiens_hsa001202.37363342
12Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.28713335
13Retinol metabolism_Homo sapiens_hsa008302.26543075
14PPAR signaling pathway_Homo sapiens_hsa033202.23484812
15Caffeine metabolism_Homo sapiens_hsa002322.18894016
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.12512723
17Steroid hormone biosynthesis_Homo sapiens_hsa001402.12071732
18Glycerophospholipid metabolism_Homo sapiens_hsa005642.09935495
19Nitrogen metabolism_Homo sapiens_hsa009102.08026315
20Fatty acid degradation_Homo sapiens_hsa000712.06943256
21Histidine metabolism_Homo sapiens_hsa003402.04022133
22Chemical carcinogenesis_Homo sapiens_hsa052041.99577694
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95206036
24Pyrimidine metabolism_Homo sapiens_hsa002401.85417514
25Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.78512786
26Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.76088539
27Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.75830221
28Fatty acid biosynthesis_Homo sapiens_hsa000611.70717378
29p53 signaling pathway_Homo sapiens_hsa041151.66989613
30Phototransduction_Homo sapiens_hsa047441.61590399
31Regulation of autophagy_Homo sapiens_hsa041401.59961681
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.58357913
33Purine metabolism_Homo sapiens_hsa002301.53255689
34Spliceosome_Homo sapiens_hsa030401.51909603
35Homologous recombination_Homo sapiens_hsa034401.51271095
36Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.50731243
37Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.48008209
38Peroxisome_Homo sapiens_hsa041461.44712621
39Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.43846175
40Pentose phosphate pathway_Homo sapiens_hsa000301.42302254
41Oocyte meiosis_Homo sapiens_hsa041141.42293885
42ABC transporters_Homo sapiens_hsa020101.40804037
43Phenylalanine metabolism_Homo sapiens_hsa003601.38724553
44Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.38132175
45Tyrosine metabolism_Homo sapiens_hsa003501.36171864
46Mineral absorption_Homo sapiens_hsa049781.35738155
47Ovarian steroidogenesis_Homo sapiens_hsa049131.32296175
48Fanconi anemia pathway_Homo sapiens_hsa034601.26949935
49Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26340524
50Fatty acid metabolism_Homo sapiens_hsa012121.25593102
51Sphingolipid metabolism_Homo sapiens_hsa006001.25311675
52Cyanoamino acid metabolism_Homo sapiens_hsa004601.22557488
53Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.22216974
54Pyruvate metabolism_Homo sapiens_hsa006201.20660658
55Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.10519859
56RNA degradation_Homo sapiens_hsa030181.10415646
57Arginine and proline metabolism_Homo sapiens_hsa003301.10030008
58Fatty acid elongation_Homo sapiens_hsa000621.06090711
59Complement and coagulation cascades_Homo sapiens_hsa046101.02235955
60Bile secretion_Homo sapiens_hsa049760.99092427
61One carbon pool by folate_Homo sapiens_hsa006700.95572911
62Drug metabolism - other enzymes_Homo sapiens_hsa009830.93770587
63mRNA surveillance pathway_Homo sapiens_hsa030150.93131894
64Sulfur metabolism_Homo sapiens_hsa009200.88467628
65Cysteine and methionine metabolism_Homo sapiens_hsa002700.88351355
66FoxO signaling pathway_Homo sapiens_hsa040680.87217349
67Nicotine addiction_Homo sapiens_hsa050330.86857816
68Biosynthesis of amino acids_Homo sapiens_hsa012300.86480089
69Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.82893402
70Arginine biosynthesis_Homo sapiens_hsa002200.82051889
71Taste transduction_Homo sapiens_hsa047420.78186229
72Linoleic acid metabolism_Homo sapiens_hsa005910.77873133
73alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.76962946
74Morphine addiction_Homo sapiens_hsa050320.76883085
75Olfactory transduction_Homo sapiens_hsa047400.71985101
76Circadian rhythm_Homo sapiens_hsa047100.70861814
77DNA replication_Homo sapiens_hsa030300.70234264
78Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.69232061
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.68397779
80Epstein-Barr virus infection_Homo sapiens_hsa051690.67621231
81Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.66099252
82Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.64459463
83Nucleotide excision repair_Homo sapiens_hsa034200.63636105
84Glycerolipid metabolism_Homo sapiens_hsa005610.63479396
85Butanoate metabolism_Homo sapiens_hsa006500.63320782
86Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.60538101
87Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.60440036
88Serotonergic synapse_Homo sapiens_hsa047260.60161212
89Adipocytokine signaling pathway_Homo sapiens_hsa049200.59391785
90Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.59009115
91Oxidative phosphorylation_Homo sapiens_hsa001900.58375507
92HIF-1 signaling pathway_Homo sapiens_hsa040660.57992856
93Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.57665834
94Vascular smooth muscle contraction_Homo sapiens_hsa042700.55786954
95Starch and sucrose metabolism_Homo sapiens_hsa005000.54806738
96Choline metabolism in cancer_Homo sapiens_hsa052310.54092637
97Fat digestion and absorption_Homo sapiens_hsa049750.53166644
98Ether lipid metabolism_Homo sapiens_hsa005650.49682309
99Lysine degradation_Homo sapiens_hsa003100.49168233
100Protein digestion and absorption_Homo sapiens_hsa049740.47612082
101Arachidonic acid metabolism_Homo sapiens_hsa005900.47242718
102Renal cell carcinoma_Homo sapiens_hsa052110.45847037
103Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44984461
104Adherens junction_Homo sapiens_hsa045200.43106189
105Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.42980245
106Inositol phosphate metabolism_Homo sapiens_hsa005620.42828152
107Proteasome_Homo sapiens_hsa030500.40139549
108GABAergic synapse_Homo sapiens_hsa047270.38681661
109TGF-beta signaling pathway_Homo sapiens_hsa043500.37653302
110Circadian entrainment_Homo sapiens_hsa047130.35731731
111Aldosterone synthesis and secretion_Homo sapiens_hsa049250.35375244
112Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.35107948
113Insulin secretion_Homo sapiens_hsa049110.35103961
114Pentose and glucuronate interconversions_Homo sapiens_hsa000400.35073368
115MicroRNAs in cancer_Homo sapiens_hsa052060.34899289
116Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.34576258
117beta-Alanine metabolism_Homo sapiens_hsa004100.34345536
118Metabolic pathways_Homo sapiens_hsa011000.33986768
119Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.33005138
120Hippo signaling pathway_Homo sapiens_hsa043900.32446940
121Salivary secretion_Homo sapiens_hsa049700.31625569
122Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31164800
123Glutamatergic synapse_Homo sapiens_hsa047240.30810991
124Parkinsons disease_Homo sapiens_hsa050120.27899782
125Renin secretion_Homo sapiens_hsa049240.27809710
126Base excision repair_Homo sapiens_hsa034100.27330343
127Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.26593586
128Sulfur relay system_Homo sapiens_hsa041220.25912334
129Small cell lung cancer_Homo sapiens_hsa052220.24634380
130Renin-angiotensin system_Homo sapiens_hsa046140.23434412
131Thyroid cancer_Homo sapiens_hsa052160.21472444
132Maturity onset diabetes of the young_Homo sapiens_hsa049500.21422663
133GnRH signaling pathway_Homo sapiens_hsa049120.20936981
134Thyroid hormone signaling pathway_Homo sapiens_hsa049190.20600084
135Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.20100604
136Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.19249021
137Intestinal immune network for IgA production_Homo sapiens_hsa046720.18459454
138Dorso-ventral axis formation_Homo sapiens_hsa043200.17758569
139Tight junction_Homo sapiens_hsa045300.17404192
140Selenocompound metabolism_Homo sapiens_hsa004500.14973050
141Glutathione metabolism_Homo sapiens_hsa004800.14234079
142Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.13639416
143Prostate cancer_Homo sapiens_hsa052150.12723930
144Rheumatoid arthritis_Homo sapiens_hsa053230.12006251
145Lysosome_Homo sapiens_hsa041420.11733939
146Steroid biosynthesis_Homo sapiens_hsa001000.09360934
147Long-term depression_Homo sapiens_hsa047300.09358062
148Galactose metabolism_Homo sapiens_hsa000520.08884444
149Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.06822216
150VEGF signaling pathway_Homo sapiens_hsa043700.05886550
151Herpes simplex infection_Homo sapiens_hsa051680.05657192
152Mismatch repair_Homo sapiens_hsa034300.04876546
153PI3K-Akt signaling pathway_Homo sapiens_hsa041510.03525302
154Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.03308245
155Propanoate metabolism_Homo sapiens_hsa006400.02686810
156HTLV-I infection_Homo sapiens_hsa051660.01766975
157Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.00663930

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