PTF1A

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 protein that is a component of the pancreas transcription factor 1 complex (PTF1) and is known to have a role in mammalian pancreatic development. The protein plays a role in determining whether cells allocated to the pancreatic buds continue towards pancreatic organogenesis or revert back to duodenal fates. The protein is thought to be involved in the maintenance of exocrine pancreas-specific gene expression including elastase 1 and amylase. Mutations in this gene cause cerebellar agenesis and loss of expression is seen in ductal type pancreas cancers. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1cobalamin metabolic process (GO:0009235)9.25360661
2piRNA metabolic process (GO:0034587)8.80438863
3synaptonemal complex assembly (GO:0007130)7.66227174
4sterol catabolic process (GO:0016127)7.51844637
5cholesterol catabolic process (GO:0006707)7.51844637
6peptidyl-proline hydroxylation (GO:0019511)7.46384901
7synaptonemal complex organization (GO:0070193)7.39605761
8cysteine metabolic process (GO:0006534)7.16677552
9transcytosis (GO:0045056)7.15762233
10synapsis (GO:0007129)6.98129077
11regulation of phospholipase A2 activity (GO:0032429)6.94480830
12proline biosynthetic process (GO:0006561)6.80080396
13chromosome organization involved in meiosis (GO:0070192)6.79439765
14negative regulation of digestive system process (GO:0060457)6.64091651
15intestinal absorption (GO:0050892)6.59538050
16histone H3-K9 demethylation (GO:0033169)6.47671548
17male meiosis I (GO:0007141)6.47120032
18DNA methylation involved in gamete generation (GO:0043046)6.38822853
19glycolipid catabolic process (GO:0019377)6.37216577
20male meiosis (GO:0007140)6.25769290
21membrane lipid catabolic process (GO:0046466)5.88714781
22branched-chain amino acid catabolic process (GO:0009083)5.86824385
23protein hydroxylation (GO:0018126)5.74417556
24serine family amino acid biosynthetic process (GO:0009070)5.72298243
25DNA synthesis involved in DNA repair (GO:0000731)5.56827794
26COPI coating of Golgi vesicle (GO:0048205)5.50875869
27Golgi transport vesicle coating (GO:0048200)5.50875869
28valine metabolic process (GO:0006573)5.34248078
29meiosis I (GO:0007127)5.33788602
30cellular modified amino acid catabolic process (GO:0042219)5.29591012
31aspartate family amino acid catabolic process (GO:0009068)5.18657239
32intestinal epithelial cell development (GO:0060576)5.12105165
33ceramide catabolic process (GO:0046514)5.11713685
34positive regulation of heat generation (GO:0031652)5.10338606
35zinc ion transport (GO:0006829)5.07745692
36protein maturation by protein folding (GO:0022417)5.06797110
37branched-chain amino acid metabolic process (GO:0009081)5.05476558
38hindbrain development (GO:0030902)5.05377246
39pattern specification involved in kidney development (GO:0061004)5.01796780
40mitochondrial calcium ion transport (GO:0006851)5.00048186
41regulation of fever generation (GO:0031620)4.92057346
42activation of signaling protein activity involved in unfolded protein response (GO:0006987)4.88739882
43L-serine metabolic process (GO:0006563)4.85759085
44homocysteine metabolic process (GO:0050667)4.72693820
45glomerulus development (GO:0032835)4.72098214
46positive regulation of nuclease activity (GO:0032075)4.69497663
47* retina layer formation (GO:0010842)4.68781138
48response to endoplasmic reticulum stress (GO:0034976)4.65498357
49leukotriene biosynthetic process (GO:0019370)4.63900970
50GDP-mannose metabolic process (GO:0019673)4.61975529
51proline metabolic process (GO:0006560)4.58542755
52meiotic nuclear division (GO:0007126)4.53607857
53retinal ganglion cell axon guidance (GO:0031290)4.47970083
54endoplasmic reticulum unfolded protein response (GO:0030968)4.47771605
554-hydroxyproline metabolic process (GO:0019471)4.45681672
56signal peptide processing (GO:0006465)4.45668566
57serine family amino acid metabolic process (GO:0009069)4.44319279
58glutamine metabolic process (GO:0006541)4.39606522
59reciprocal meiotic recombination (GO:0007131)4.37484283
60reciprocal DNA recombination (GO:0035825)4.37484283
61maintenance of protein localization in organelle (GO:0072595)4.35101848
62cellular response to unfolded protein (GO:0034620)4.34958858
63creatine metabolic process (GO:0006600)4.29225951
64regulation of nuclease activity (GO:0032069)4.26880295
65cellular response to topologically incorrect protein (GO:0035967)4.16724176
66somite development (GO:0061053)4.12676349
67ER-nucleus signaling pathway (GO:0006984)4.11897760
68erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.10929870
69L-phenylalanine catabolic process (GO:0006559)4.10929870
70glycine metabolic process (GO:0006544)4.02822945
71negative regulation of epidermal cell differentiation (GO:0045605)4.01290520
72polarized epithelial cell differentiation (GO:0030859)3.99153473
73neutrophil mediated immunity (GO:0002446)3.98083835
74peptidyl-lysine dimethylation (GO:0018027)3.96658528
75regulation of heat generation (GO:0031650)3.91118437
76protein K11-linked deubiquitination (GO:0035871)3.91027018
77erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.90537739
78L-phenylalanine metabolic process (GO:0006558)3.90537739
79negative regulation of multicellular organism growth (GO:0040015)3.85718821
80retinal rod cell development (GO:0046548)3.82744736
81ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.80472201
82meiotic cell cycle process (GO:1903046)3.80075349
83steroid catabolic process (GO:0006706)3.78847397
84segment specification (GO:0007379)3.78419993
85positive regulation of cellular response to oxidative stress (GO:1900409)3.74767376
86positive regulation of response to oxidative stress (GO:1902884)3.74767376
87sulfur amino acid biosynthetic process (GO:0000097)3.72557754
88positive regulation of meiotic cell cycle (GO:0051446)3.70584953
89negative regulation of cell fate commitment (GO:0010454)3.64184331
90mitochondrion distribution (GO:0048311)3.63562648
91coenzyme catabolic process (GO:0009109)3.63082073
92cellular protein catabolic process (GO:0044257)3.61382238
93response to unfolded protein (GO:0006986)3.59094823
94histone H3-K9 methylation (GO:0051567)3.58174606
95protein N-linked glycosylation via asparagine (GO:0018279)3.53660380
96positive regulation of meiosis (GO:0045836)3.53484266
97alpha-amino acid biosynthetic process (GO:1901607)3.53411309
98peptidyl-asparagine modification (GO:0018196)3.50728023
99proximal/distal pattern formation (GO:0009954)3.49608928
100COPII vesicle coating (GO:0048208)3.49179509
101antibacterial humoral response (GO:0019731)3.48147891
102response to topologically incorrect protein (GO:0035966)3.47587456
103primitive streak formation (GO:0090009)3.45741232
104cell redox homeostasis (GO:0045454)3.45214633
105microtubule depolymerization (GO:0007019)3.44533848
106spinal cord motor neuron differentiation (GO:0021522)3.42859760
107negative regulation of epidermis development (GO:0045683)3.39611307
108neuron fate determination (GO:0048664)3.37817432
109eye photoreceptor cell development (GO:0042462)3.36339865
110reproductive system development (GO:0061458)3.35171630
111lung secretory cell differentiation (GO:0061140)3.34621222
112neuron remodeling (GO:0016322)3.33805421
113regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)3.32208912
114gene silencing by RNA (GO:0031047)3.32176320
115aspartate family amino acid metabolic process (GO:0009066)3.31066573
116regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.30949406
117central nervous system myelination (GO:0022010)3.30788106
118axon ensheathment in central nervous system (GO:0032291)3.30788106
119response to pheromone (GO:0019236)3.29105174
120tetrapyrrole metabolic process (GO:0033013)3.29060687
121photoreceptor cell development (GO:0042461)3.28950614
122outer ear morphogenesis (GO:0042473)3.27901281
123regulation of meiosis I (GO:0060631)3.27600962
124negative regulation of translation involved in gene silencing by miRNA (GO:0035278)3.27362843
125negative regulation of translation, ncRNA-mediated (GO:0040033)3.27362843
126regulation of translation, ncRNA-mediated (GO:0045974)3.27362843
127sphingolipid catabolic process (GO:0030149)3.24296253
128protein N-linked glycosylation (GO:0006487)3.24025015
129thalamus development (GO:0021794)3.21078840
130antimicrobial humoral response (GO:0019730)3.20807153
131resolution of meiotic recombination intermediates (GO:0000712)3.20749013
132mitochondrial respiratory chain complex I assembly (GO:0032981)3.19030779
133NADH dehydrogenase complex assembly (GO:0010257)3.19030779
134mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.19030779
135retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.17516142
136peptidyl-proline modification (GO:0018208)3.17470489
137positive regulation of gastrulation (GO:2000543)3.17267435
138regulation of glucocorticoid secretion (GO:2000849)3.15203281
139histone demethylation (GO:0016577)3.14998673
140acrosome reaction (GO:0007340)3.14052641
141single strand break repair (GO:0000012)3.13565972
142otic vesicle formation (GO:0030916)3.13520781
143protein localization to chromosome (GO:0034502)3.13194845
144regulation of oxidative stress-induced cell death (GO:1903201)3.12601668
145cell proliferation involved in metanephros development (GO:0072203)3.12403096
146protein dealkylation (GO:0008214)3.10211111
147protein demethylation (GO:0006482)3.10211111
148arachidonic acid secretion (GO:0050482)3.09799565
149icosanoid secretion (GO:0032309)3.09799565
150ER overload response (GO:0006983)3.09043871
151sister chromatid cohesion (GO:0007062)3.08956577
152ribosomal small subunit assembly (GO:0000028)3.07682523
153neurotransmitter catabolic process (GO:0042135)3.07198888
154epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.06155923
155establishment of apical/basal cell polarity (GO:0035089)3.04598752
156glycine transport (GO:0015816)3.04333952
157sulfur amino acid catabolic process (GO:0000098)3.03508872
158embryonic body morphogenesis (GO:0010172)3.01748238
159glutamine family amino acid biosynthetic process (GO:0009084)2.98540733
160myeloid leukocyte mediated immunity (GO:0002444)2.98381527
161histone lysine demethylation (GO:0070076)2.98364872
162L-alpha-amino acid transmembrane transport (GO:1902475)2.98069276
163lysine metabolic process (GO:0006553)2.97478944
164lysine catabolic process (GO:0006554)2.97478944
165biotin metabolic process (GO:0006768)2.96652905
166negative regulation of inclusion body assembly (GO:0090084)2.95076833
167central nervous system projection neuron axonogenesis (GO:0021952)2.94413138
168peptide catabolic process (GO:0043171)2.93469613
169estrogen biosynthetic process (GO:0006703)2.91364887
170atrioventricular valve morphogenesis (GO:0003181)2.90939770
171long term synaptic depression (GO:0060292)2.85701126
172neuron recognition (GO:0008038)2.85560920
173establishment of nucleus localization (GO:0040023)2.76985215
174DNA alkylation (GO:0006305)2.76232657
175DNA methylation (GO:0006306)2.76232657
176regulation of smooth muscle cell differentiation (GO:0051150)2.75370486
177centriole replication (GO:0007099)2.74436053
178gonadal mesoderm development (GO:0007506)2.72651296
179* pancreas development (GO:0031016)2.72054419
180histone H3-K9 modification (GO:0061647)2.68816314
181cell differentiation in spinal cord (GO:0021515)2.68783357
182regulation of alternative mRNA splicing, via spliceosome (GO:0000381)2.66943196
183neuronal stem cell maintenance (GO:0097150)2.66541012
184protein K48-linked deubiquitination (GO:0071108)2.65810822
185embryonic forelimb morphogenesis (GO:0035115)2.59460134
186poly(A)+ mRNA export from nucleus (GO:0016973)2.59115148
187centriole assembly (GO:0098534)2.59050022
188somite rostral/caudal axis specification (GO:0032525)2.56975073
189cell migration in hindbrain (GO:0021535)2.55211779
190inner mitochondrial membrane organization (GO:0007007)2.54707407
191male genitalia development (GO:0030539)2.51743454
192epithelial cilium movement (GO:0003351)2.50762655
193central nervous system neuron axonogenesis (GO:0021955)2.50439160
194regulation of corticosteroid hormone secretion (GO:2000846)2.49667998
195negative chemotaxis (GO:0050919)2.47262355
196intestinal cholesterol absorption (GO:0030299)15.5433436
197digestion (GO:0007586)14.0920105
198protein retention in ER lumen (GO:0006621)12.8044517
199* exocrine pancreas development (GO:0031017)12.0284728
200maintenance of protein localization in endoplasmic reticulum (GO:0035437)11.9762610

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat7.65072203
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.32405679
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.81186279
4STAT6_21828071_ChIP-Seq_BEAS2B_Human3.58802305
5ERG_21242973_ChIP-ChIP_JURKAT_Human3.57626552
6EZH2_22144423_ChIP-Seq_EOC_Human3.46210536
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.32224757
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.06400639
9EZH2_27304074_Chip-Seq_ESCs_Mouse3.03917626
10ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.94269130
11* CBX2_27304074_Chip-Seq_ESCs_Mouse2.93711433
12SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.76615371
13GBX2_23144817_ChIP-Seq_PC3_Human2.75298257
14CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.74123151
15IGF1R_20145208_ChIP-Seq_DFB_Human2.72915418
16RNF2_16625203_ChIP-ChIP_MESCs_Mouse2.65663331
17RNF2_27304074_Chip-Seq_NSC_Mouse2.65396589
18FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.55100162
19* RNF2_27304074_Chip-Seq_ESCs_Mouse2.53245783
20* BMI1_23680149_ChIP-Seq_NPCS_Mouse2.52437367
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.52235765
22PPARA_22158963_ChIP-Seq_LIVER_Mouse2.51097212
23* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.47559333
24NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.46835867
25KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.44355993
26KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.44355993
27KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.44355993
28* POU5F1_16153702_ChIP-ChIP_HESCs_Human2.43116758
29PHC1_16625203_ChIP-ChIP_MESCs_Mouse2.42262440
30RXR_22158963_ChIP-Seq_LIVER_Mouse2.42008861
31* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.30994067
32TP63_19390658_ChIP-ChIP_HaCaT_Human2.21829710
33* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.21077348
34* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.21077348
35VDR_22108803_ChIP-Seq_LS180_Human2.13638565
36GATA4_25053715_ChIP-Seq_YYC3_Human2.12312294
37NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.12066232
38CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.09569991
39GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.07885971
40* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.98539667
41PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.97607824
42TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.96656177
43SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.96510516
44LXR_22158963_ChIP-Seq_LIVER_Mouse1.93973310
45* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.93264962
46ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.92932303
47* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.91060289
48POU3F2_20337985_ChIP-ChIP_501MEL_Human1.89397465
49* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.89147550
50SOX2_27498859_Chip-Seq_STOMACH_Mouse1.88585970
51* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.86929947
52SALL1_21062744_ChIP-ChIP_HESCs_Human1.85374323
53CTBP2_25329375_ChIP-Seq_LNCAP_Human1.83911327
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.83885892
55ESR2_21235772_ChIP-Seq_MCF-7_Human1.83739766
56TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.82313163
57GATA6_25053715_ChIP-Seq_YYC3_Human1.81857729
58* EZH2_27294783_Chip-Seq_ESCs_Mouse1.79591614
59CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.79020230
60RBPJ_22232070_ChIP-Seq_NCS_Mouse1.76512501
61STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.74194114
62* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.73009004
63CTBP1_25329375_ChIP-Seq_LNCAP_Human1.72640873
64ESR1_21235772_ChIP-Seq_MCF-7_Human1.72413694
65PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.70619779
66AR_21572438_ChIP-Seq_LNCaP_Human1.69952903
67E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.68614496
68FUS_26573619_Chip-Seq_HEK293_Human1.66976917
69PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.66257027
70PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.64760563
71AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.60572623
72TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.59089065
73POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.59089065
74* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.58498934
75PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.56178503
76AR_25329375_ChIP-Seq_VCAP_Human1.55464384
77P300_19829295_ChIP-Seq_ESCs_Human1.50432097
78ZFP57_27257070_Chip-Seq_ESCs_Mouse1.50283189
79SA1_27219007_Chip-Seq_ERYTHROID_Human1.49481038
80TAF15_26573619_Chip-Seq_HEK293_Human1.47115044
81HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.47058818
82P68_20966046_ChIP-Seq_HELA_Human1.46985098
83LXR_22292898_ChIP-Seq_THP-1_Human1.46444705
84MYC_18555785_ChIP-Seq_MESCs_Mouse1.44541843
85* REST_21632747_ChIP-Seq_MESCs_Mouse1.44241532
86SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.42058436
87OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.41894702
88IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.41016484
89CBP_20019798_ChIP-Seq_JUKART_Human1.41016484
90* TP53_20018659_ChIP-ChIP_R1E_Mouse1.40877171
91EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.39605358
92CHD1_26751641_Chip-Seq_LNCaP_Human1.39317095
93RARG_19884340_ChIP-ChIP_MEFs_Mouse1.38321185
94* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.36654460
95SMAD4_21799915_ChIP-Seq_A2780_Human1.35501030
96EWS_26573619_Chip-Seq_HEK293_Human1.34032978
97* RING1B_27294783_Chip-Seq_NPCs_Mouse1.33329925
98MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33088292
99CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.31590064
100NR3C1_21868756_ChIP-Seq_MCF10A_Human1.31258251
101EGR1_19032775_ChIP-ChIP_M12_Human1.30642550
102CREB1_26743006_Chip-Seq_LNCaP_Human1.30167246
103MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29788846
104UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.29195885
105EP300_21415370_ChIP-Seq_HL-1_Mouse1.28459360
106PIAS1_25552417_ChIP-Seq_VCAP_Human1.28126742
107SMAD3_21741376_ChIP-Seq_EPCs_Human1.28089187
108BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.27878626
109RING1B_27294783_Chip-Seq_ESCs_Mouse1.26981346
110SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.26632178
111HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.26130432
112RUNX2_22187159_ChIP-Seq_PCA_Human1.25071997
113STAT3_23295773_ChIP-Seq_U87_Human1.23843919
114SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23830146
115GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23120713
116SMAD_19615063_ChIP-ChIP_OVARY_Human1.21679896
117ERA_21632823_ChIP-Seq_H3396_Human1.20139050
118CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.17810877
119PRDM14_20953172_ChIP-Seq_ESCs_Human1.16055924
120EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.14914007
121SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.13955430
122DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.13854311
123P63_26484246_Chip-Seq_KERATINOCYTES_Human1.13231548
124RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.13165386
125ETS1_20019798_ChIP-Seq_JURKAT_Human1.12414335
126SMAD4_21741376_ChIP-Seq_EPCs_Human1.11765528
127NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.11022697
128TCF4_23295773_ChIP-Seq_U87_Human1.10471840
129BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10089230
130SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.09875715
131TAF2_19829295_ChIP-Seq_ESCs_Human1.09480121
132CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.08080818
133BCOR_27268052_Chip-Seq_Bcells_Human1.07918769
134ETS1_21867929_ChIP-Seq_TH2_Mouse1.07545513
135ATF3_27146783_Chip-Seq_COLON_Human1.07375209
136FOXP1_21924763_ChIP-Seq_HESCs_Human1.07298724
137ZNF274_21170338_ChIP-Seq_K562_Hela1.07023630
138PCGF2_27294783_Chip-Seq_NPCs_Mouse1.06372565
139IRF1_19129219_ChIP-ChIP_H3396_Human1.06371661
140SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06144617
141CTCF_27219007_Chip-Seq_Bcells_Human1.05660413
142TP53_18474530_ChIP-ChIP_U2OS_Human1.05377515
143TP63_22573176_ChIP-Seq_HFKS_Human1.04231700
144FLI1_21867929_ChIP-Seq_TH2_Mouse1.03820419
145ERG_20517297_ChIP-Seq_VCAP_Human1.03344127
146CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02499564
147MYC_18358816_ChIP-ChIP_MESCs_Mouse1.02122762
148TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02001085
149NANOG_18555785_Chip-Seq_ESCs_Mouse1.01776092
150MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.01114281
151* ESET_19884257_ChIP-Seq_ESCs_Mouse1.00102805
152SA1_27219007_Chip-Seq_Bcells_Human0.98953879
153GATA1_22025678_ChIP-Seq_K562_Human0.98809509
154CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97025866
155P53_21459846_ChIP-Seq_SAOS-2_Human0.96421090
156DNAJC2_21179169_ChIP-ChIP_NT2_Human0.96416941
157ELK4_26923725_Chip-Seq_MESODERM_Mouse0.95955201
158SMAD3_21741376_ChIP-Seq_ESCs_Human0.94947741
159SOX2_21211035_ChIP-Seq_LN229_Gbm0.94353730
160BCAT_22108803_ChIP-Seq_LS180_Human0.94328171
161TBX5_21415370_ChIP-Seq_HL-1_Mouse0.94300639
162RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.94139786
163FOXH1_21741376_ChIP-Seq_ESCs_Human0.94105730
164CLOCK_20551151_ChIP-Seq_293T_Human0.94060719
165CEBPB_23403033_ChIP-Seq_LIVER_Mouse0.93957936
166MYC_19079543_ChIP-ChIP_MESCs_Mouse0.93872263
167TCF4_18268006_ChIP-ChIP_LS174T_Human0.92876741
168HTT_18923047_ChIP-ChIP_STHdh_Human0.92784039
169CTCF_20526341_ChIP-Seq_ESCs_Human0.92651861
170GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.92133487
171SOX9_26525672_Chip-Seq_HEART_Mouse0.92052530
172TAL1_26923725_Chip-Seq_HPCs_Mouse0.91122367
173SUZ12_27294783_Chip-Seq_NPCs_Mouse0.90161502
174RACK7_27058665_Chip-Seq_MCF-7_Human0.90132889
175* CBP_21632823_ChIP-Seq_H3396_Human0.89753358
176KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.89635768
177GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.87955881
178FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.86892996
179CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.86636823
180* OCT4_20526341_ChIP-Seq_ESCs_Human0.85939264
181SOX2_20726797_ChIP-Seq_SW620_Human0.85533876
182SOX3_22085726_ChIP-Seq_MUSCLE_Mouse0.85482362
183RUNX1_27514584_Chip-Seq_MCF-7_Human0.85335246
184JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.85004954
185TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.82309566
186PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.80576540
187TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.80505062
188CTCF_18555785_ChIP-Seq_MESCs_Mouse0.80044703
189SOX2_21211035_ChIP-Seq_LN229_Human0.79917198
190TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.79903827
191KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human0.79566623
192CREB1_15753290_ChIP-ChIP_HEK293T_Human0.79420932
193CDX2_20551321_ChIP-Seq_CACO-2_Human0.79282320
194CEBPB_22108803_ChIP-Seq_LS180_Human0.78627426
195EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.78233566
196KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.78092264
197CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77411155

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001666_abnormal_nutrient_absorption9.40736043
2MP0005365_abnormal_bile_salt6.52068223
3* MP0005220_abnormal_exocrine_pancreas5.84912322
4MP0005084_abnormal_gallbladder_morpholo5.04291003
5MP0003868_abnormal_feces_composition4.96268327
6MP0000569_abnormal_digit_pigmentation4.53208909
7MP0008877_abnormal_DNA_methylation4.18348711
8MP0006292_abnormal_olfactory_placode4.04072698
9MP0005085_abnormal_gallbladder_physiolo3.53186701
10* MP0000778_abnormal_nervous_system2.92938231
11MP0003959_abnormal_lean_body2.63698975
12MP0002837_dystrophic_cardiac_calcinosis2.55402385
13MP0010030_abnormal_orbit_morphology2.47956099
14MP0003136_yellow_coat_color2.33065754
15* MP0002693_abnormal_pancreas_physiology2.30296003
16MP0005248_abnormal_Harderian_gland2.19556035
17MP0003705_abnormal_hypodermis_morpholog2.17324251
18MP0001346_abnormal_lacrimal_gland2.09460969
19MP0002210_abnormal_sex_determination2.06745106
20MP0004233_abnormal_muscle_weight2.04998190
21MP0005451_abnormal_body_composition2.02470788
22MP0002638_abnormal_pupillary_reflex2.01083127
23MP0005083_abnormal_biliary_tract10.1884742
24MP0002277_abnormal_respiratory_mucosa1.90305301
25MP0006072_abnormal_retinal_apoptosis1.89798681
26* MP0001664_abnormal_digestion1.88072521
27MP0009379_abnormal_foot_pigmentation1.87030154
28MP0000534_abnormal_ureter_morphology1.85253494
29MP0002160_abnormal_reproductive_system1.80664366
30MP0001929_abnormal_gametogenesis1.76906968
31MP0001502_abnormal_circadian_rhythm1.71647787
32MP0002139_abnormal_hepatobiliary_system1.69576740
33MP0004264_abnormal_extraembryonic_tissu1.68786801
34MP0003879_abnormal_hair_cell1.64767931
35MP0002653_abnormal_ependyma_morphology1.61732243
36MP0003950_abnormal_plasma_membrane1.61214520
37MP0003698_abnormal_male_reproductive1.58439803
38MP0005448_abnormal_energy_balance1.58073073
39MP0001145_abnormal_male_reproductive1.57773873
40MP0010234_abnormal_vibrissa_follicle1.56610911
41MP0003938_abnormal_ear_development1.52298102
42MP0005332_abnormal_amino_acid1.51467871
43MP0000049_abnormal_middle_ear1.50072457
44MP0003385_abnormal_body_wall1.48330054
45MP0000653_abnormal_sex_gland1.46235641
46MP0005551_abnormal_eye_electrophysiolog1.44477090
47* MP0001944_abnormal_pancreas_morphology1.42860256
48MP0006276_abnormal_autonomic_nervous1.42176200
49MP0002118_abnormal_lipid_homeostasis1.41370816
50* MP0001286_abnormal_eye_development1.40495129
51MP0001299_abnormal_eye_distance/1.39233272
52MP0003880_abnormal_central_pattern1.36523547
53MP0008058_abnormal_DNA_repair1.34517226
54MP0008438_abnormal_cutaneous_collagen1.30875668
55* MP0002184_abnormal_innervation1.30797729
56MP0005503_abnormal_tendon_morphology1.30722815
57MP0001873_stomach_inflammation1.29192112
58* MP0000955_abnormal_spinal_cord1.28749758
59MP0004270_analgesia1.27743665
60MP0000026_abnormal_inner_ear1.27511224
61MP0008995_early_reproductive_senescence1.24879434
62MP0005595_abnormal_vascular_smooth1.22595470
63MP0000383_abnormal_hair_follicle1.21656547
64MP0000490_abnormal_crypts_of1.15539971
65MP0005253_abnormal_eye_physiology1.12699769
66MP0000470_abnormal_stomach_morphology1.12556997
67MP0005389_reproductive_system_phenotype1.12236583
68MP0005165_increased_susceptibility_to1.11892119
69MP0003890_abnormal_embryonic-extraembry1.11622964
70MP0005408_hypopigmentation1.09798224
71MP0001293_anophthalmia1.09193980
72MP0009053_abnormal_anal_canal1.06212658
73MP0002932_abnormal_joint_morphology1.05579702
74* MP0005195_abnormal_posterior_eye1.05243743
75MP0003718_maternal_effect1.04818533
76MP0000631_abnormal_neuroendocrine_gland1.03825665
77MP0002233_abnormal_nose_morphology1.02955390
78MP0005423_abnormal_somatic_nervous1.01387588
79* MP0003861_abnormal_nervous_system0.99712315
80MP0009250_abnormal_appendicular_skeleto0.98189515
81MP0002102_abnormal_ear_morphology0.95785210
82MP0003122_maternal_imprinting0.94984658
83MP0000003_abnormal_adipose_tissue0.94211974
84MP0006054_spinal_hemorrhage0.93900473
85MP0001986_abnormal_taste_sensitivity0.93297115
86MP0004859_abnormal_synaptic_plasticity0.92123522
87* MP0002882_abnormal_neuron_morphology0.91593082
88MP0009643_abnormal_urine_homeostasis0.90565210
89MP0005391_vision/eye_phenotype0.90361525
90MP0002095_abnormal_skin_pigmentation0.88054741
91MP0005535_abnormal_body_temperature0.86126155
92MP0009384_cardiac_valve_regurgitation0.85304877
93MP0001324_abnormal_eye_pigmentation0.85297543
94MP0002249_abnormal_larynx_morphology0.84515486
95MP0002108_abnormal_muscle_morphology0.84484352
96MP0005646_abnormal_pituitary_gland0.84065210
97MP0003123_paternal_imprinting0.83948188
98* MP0002752_abnormal_somatic_nervous0.83862004
99MP0004742_abnormal_vestibular_system0.82489245
100MP0005360_urolithiasis0.82383842
101MP0003567_abnormal_fetal_cardiomyocyte0.81317708
102MP0003937_abnormal_limbs/digits/tail_de0.80267775
103MP0000427_abnormal_hair_cycle0.80051276
104MP0002697_abnormal_eye_size0.80023378
105MP0000230_abnormal_systemic_arterial0.79723410
106MP0003806_abnormal_nucleotide_metabolis0.79680247
107MP0001663_abnormal_digestive_system0.79637704
108MP0002161_abnormal_fertility/fecundity0.79111647
109MP0005670_abnormal_white_adipose0.78899102
110* MP0002078_abnormal_glucose_homeostasis0.78137083
111MP0003635_abnormal_synaptic_transmissio0.78119317
112MP0003283_abnormal_digestive_organ0.77103323
113MP0000428_abnormal_craniofacial_morphol0.76383705
114MP0002067_abnormal_sensory_capabilities0.75036945
115MP0003186_abnormal_redox_activity0.74665578
116MP0000462_abnormal_digestive_system0.74496693
117MP0001501_abnormal_sleep_pattern0.74279588
118MP0010329_abnormal_lipoprotein_level0.74176576
119MP0000678_abnormal_parathyroid_gland0.73377767
120MP0002557_abnormal_social/conspecific_i0.71939773
121* MP0003638_abnormal_response/metabolism_0.71301300
122MP0002063_abnormal_learning/memory/cond0.70908245
123MP0002272_abnormal_nervous_system0.69854390
124MP0002734_abnormal_mechanical_nocicepti0.69489461
125MP0003953_abnormal_hormone_level0.68508302
126MP0001764_abnormal_homeostasis0.68145525
127MP0002089_abnormal_postnatal_growth/wei0.67991333
128MP0005452_abnormal_adipose_tissue0.67690556
129MP0005058_abnormal_lysosome_morphology0.67447935
130MP0003252_abnormal_bile_duct0.66035486
131MP0006036_abnormal_mitochondrial_physio0.65588565
132MP0008789_abnormal_olfactory_epithelium0.65275220
133MP0005381_digestive/alimentary_phenotyp0.64597933
134MP0000613_abnormal_salivary_gland0.60007581
135MP0000750_abnormal_muscle_regeneration0.59002769
136MP0002098_abnormal_vibrissa_morphology0.57946241
137MP0000598_abnormal_liver_morphology0.55489235
138MP0001348_abnormal_lacrimal_gland0.54200229
139MP0002796_impaired_skin_barrier0.49333233
140MP0008961_abnormal_basal_metabolism0.48632095
141MP0005319_abnormal_enzyme/_coenzyme0.47879390
142MP0008004_abnormal_stomach_pH0.46330511
143MP0008872_abnormal_physiological_respon0.45844827
144MP0005499_abnormal_olfactory_system0.45733613
145MP0005394_taste/olfaction_phenotype0.45733613
146MP0002938_white_spotting0.45118857
147MP0002928_abnormal_bile_duct0.43990987
148MP0000609_abnormal_liver_physiology0.42214398
149* MP0001731_abnormal_postnatal_growth0.41709522
150MP0005334_abnormal_fat_pad0.41171536
151MP0000377_abnormal_hair_follicle0.40739277
152MP0005375_adipose_tissue_phenotype0.40321193
153MP0003329_amyloid_beta_deposits0.39805039
154MP0002138_abnormal_hepatobiliary_system0.38951608
155MP0000367_abnormal_coat/_hair0.38808932
156MP0003795_abnormal_bone_structure0.38392813
157* MP0001845_abnormal_inflammatory_respons0.35292535
158MP0000647_abnormal_sebaceous_gland0.32730195
159MP0002060_abnormal_skin_morphology0.31540973
160MP0002069_abnormal_eating/drinking_beha0.30395008
161MP0000371_diluted_coat_color0.30301036
162MP0004924_abnormal_behavior0.28718604
163MP0005386_behavior/neurological_phenoty0.28718604
164MP0009333_abnormal_splenocyte_physiolog0.28688761
165MP0009703_decreased_birth_body0.27205228
166* MP0003956_abnormal_body_size0.26157099
167MP0004272_abnormal_basement_membrane0.25879294
168MP0003656_abnormal_erythrocyte_physiolo0.25510204
169* MP0009642_abnormal_blood_homeostasis0.25018921
170MP0003942_abnormal_urinary_system0.24579623
171MP0005187_abnormal_penis_morphology0.23221334
172MP0009672_abnormal_birth_weight0.22147163
173MP0004185_abnormal_adipocyte_glucose0.20711514
174MP0003119_abnormal_digestive_system0.20504317
175MP0001340_abnormal_eyelid_morphology0.20398984
176MP0010678_abnormal_skin_adnexa0.19294352
177MP0002876_abnormal_thyroid_physiology0.19117251
178MP0005636_abnormal_mineral_homeostasis0.18918989
179MP0002135_abnormal_kidney_morphology0.18431300
180MP0000858_altered_metastatic_potential0.18105401
181MP0004858_abnormal_nervous_system0.18087258
182MP0009931_abnormal_skin_appearance0.17899340

Predicted human phenotypes

RankGene SetZ-score
1Steatorrhea (HP:0002570)9.11253334
2Fat malabsorption (HP:0002630)7.35175155
3Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)5.83523709
4Short 4th metacarpal (HP:0010044)5.83523709
5Gout (HP:0001997)5.75707545
6Exocrine pancreatic insufficiency (HP:0001738)5.45279077
7Abnormality of the intrinsic pathway (HP:0010989)5.36527118
8Hypoplasia of the pons (HP:0012110)5.00815674
9Abnormality of the pons (HP:0007361)4.76808201
10Hypoproteinemia (HP:0003075)4.74885584
11Abnormality of aromatic amino acid family metabolism (HP:0004338)4.71336736
12Abnormality of the 4th metacarpal (HP:0010012)4.69759997
13Oligodactyly (hands) (HP:0001180)4.45683803
14Pancreatitis (HP:0001733)4.26416278
15Premature skin wrinkling (HP:0100678)4.24858721
16Ketosis (HP:0001946)4.21887146
17Cortical dysplasia (HP:0002539)3.98498562
18Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.94745357
19Abnormality of alanine metabolism (HP:0010916)3.94745357
20Hyperalaninemia (HP:0003348)3.94745357
21Ketoacidosis (HP:0001993)3.92293907
22Neoplasm of the heart (HP:0100544)3.74865510
23Down-sloping shoulders (HP:0200021)3.50806735
24Abnormality of sulfur amino acid metabolism (HP:0004339)3.47979119
25Tubulointerstitial nephritis (HP:0001970)3.44081658
26Abnormality of the pancreatic islet cells (HP:0006476)3.37216952
27Abnormality of endocrine pancreas physiology (HP:0012093)3.37216952
28Broad face (HP:0000283)3.36438155
29Abnormal pancreas size (HP:0012094)3.31099640
30Hyperglycinemia (HP:0002154)3.30927337
31Abnormal protein glycosylation (HP:0012346)3.25040179
32Abnormal glycosylation (HP:0012345)3.25040179
33Abnormal isoelectric focusing of serum transferrin (HP:0003160)3.25040179
34Abnormal protein N-linked glycosylation (HP:0012347)3.25040179
35Abnormality of the common coagulation pathway (HP:0010990)3.22994454
36Bilateral microphthalmos (HP:0007633)3.22564629
37Ulnar claw (HP:0001178)3.18146169
38Long foot (HP:0001833)3.13806576
39Progressive muscle weakness (HP:0003323)3.06608079
40Pigmentary retinal degeneration (HP:0001146)3.04955304
41Shoulder girdle muscle weakness (HP:0003547)3.04523442
42Pancreatic fibrosis (HP:0100732)3.01752418
43Fatigue (HP:0012378)2.98846126
44Carpal bone hypoplasia (HP:0001498)2.94149302
45Hypoglycemic coma (HP:0001325)2.93718707
46Facial hemangioma (HP:0000329)2.91063007
47Protruding tongue (HP:0010808)2.90938935
48Abnormality of glycine metabolism (HP:0010895)2.90830811
49Abnormality of serine family amino acid metabolism (HP:0010894)2.90830811
50Methylmalonic aciduria (HP:0012120)2.88137577
51Oligodactyly (HP:0012165)2.86534780
52Hyperglycinuria (HP:0003108)2.85797620
53Abnormality of methionine metabolism (HP:0010901)2.84975445
54Supernumerary ribs (HP:0005815)2.83951349
55Tubulointerstitial fibrosis (HP:0005576)2.77418420
56Reduced antithrombin III activity (HP:0001976)2.76849877
57Abnormality of homocysteine metabolism (HP:0010919)2.72628085
58Homocystinuria (HP:0002156)2.72628085
59Median cleft lip (HP:0000161)2.70305314
60Opisthotonus (HP:0002179)2.63255700
61Short tibia (HP:0005736)2.61358144
62Choroideremia (HP:0001139)2.57557153
63Congenital glaucoma (HP:0001087)2.57153908
64Infantile muscular hypotonia (HP:0008947)2.56388788
65Increased serum pyruvate (HP:0003542)2.54296959
66Acute encephalopathy (HP:0006846)2.54206491
67Abnormal number of incisors (HP:0011064)2.52610979
68Increased purine levels (HP:0004368)2.47471072
69Hyperuricemia (HP:0002149)2.47471072
70Supernumerary bones of the axial skeleton (HP:0009144)2.47404957
71Midline defect of the nose (HP:0004122)2.46982236
72Type II lissencephaly (HP:0007260)2.46840743
73True hermaphroditism (HP:0010459)2.46802607
74Abnormality of the nasal septum (HP:0000419)2.44124701
75Vacuolated lymphocytes (HP:0001922)2.43231781
76Aplasia/Hypoplasia of the tibia (HP:0005772)2.41898344
77Redundant skin (HP:0001582)2.41797540
78Abnormality of aspartate family amino acid metabolism (HP:0010899)2.41717804
79Chorioretinal atrophy (HP:0000533)2.37968787
80Hypoglycemic seizures (HP:0002173)2.37731890
81Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.37390564
82Cerebral edema (HP:0002181)2.37233085
83Neoplasm of the oral cavity (HP:0100649)2.36604956
84Dicarboxylic aciduria (HP:0003215)2.33674252
85Abnormality of dicarboxylic acid metabolism (HP:0010995)2.33674252
86Supernumerary spleens (HP:0009799)2.33052049
87Late onset (HP:0003584)2.31660589
88Large hands (HP:0001176)2.30475998
89Absent eyelashes (HP:0000561)2.30165540
90Abnormality of the labia minora (HP:0012880)2.27153081
91Type I transferrin isoform profile (HP:0003642)2.26320467
92Cystic liver disease (HP:0006706)2.24727861
93Nephronophthisis (HP:0000090)2.22764400
94Hemivertebrae (HP:0002937)2.22431226
95Abnormality of the renal medulla (HP:0100957)2.22366949
96Cortical visual impairment (HP:0100704)2.21635019
97Pancreatic cysts (HP:0001737)2.21272959
98Dysostosis multiplex (HP:0000943)2.20639095
99Morphological abnormality of the middle ear (HP:0008609)2.20325472
100Tubular atrophy (HP:0000092)2.18805428
101Esophageal atresia (HP:0002032)2.16164864
102Abnormal tarsal ossification (HP:0008369)2.16164200
103Myocardial infarction (HP:0001658)2.15278303
104Abnormality of the parietal bone (HP:0002696)2.14781730
105Acute hepatic failure (HP:0006554)2.14124608
106Thoracic kyphosis (HP:0002942)2.13646613
107Skin pits (HP:0100276)2.11425491
108Postaxial foot polydactyly (HP:0001830)2.11304030
109Anterior segment dysgenesis (HP:0007700)2.11220921
110Hypoplasia of the odontoid process (HP:0003311)2.10609096
111Beaking of vertebral bodies (HP:0004568)2.09885725
112Anencephaly (HP:0002323)2.07819807
113Athetosis (HP:0002305)2.07381259
114Abnormality of glycolysis (HP:0004366)2.05850314
115Hyperammonemia (HP:0001987)2.05625704
116Volvulus (HP:0002580)2.05449332
117Medulloblastoma (HP:0002885)2.05103608
118Pendular nystagmus (HP:0012043)2.03302170
119* Maternal diabetes (HP:0009800)2.02672377
120Biconcave vertebral bodies (HP:0004586)2.01923182
121Gastrointestinal atresia (HP:0002589)2.01833461
122Scotoma (HP:0000575)2.00331059
123Lethargy (HP:0001254)1.98984245
124Short phalanx of the thumb (HP:0009660)1.98906978
125Synostosis of carpal bones (HP:0005048)1.95280825
126Ankyloglossia (HP:0010296)1.93828280
127Hypotension (HP:0002615)1.93106289
128Hypokinesia (HP:0002375)1.92268823
129Medial flaring of the eyebrow (HP:0010747)1.91874557
130Renal hypoplasia (HP:0000089)1.91828427
131Rimmed vacuoles (HP:0003805)1.91791315
132Genital tract atresia (HP:0001827)1.91526826
133Retinal dysplasia (HP:0007973)1.90476831
134Hypsarrhythmia (HP:0002521)1.89716590
135Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.89505704
136Cutaneous finger syndactyly (HP:0010554)1.89078612
137Adducted thumb (HP:0001181)1.88193437
138Congenital, generalized hypertrichosis (HP:0004540)1.87584633
139Vascular calcification (HP:0004934)1.87325199
140Metaphyseal cupping (HP:0003021)1.86509224
141Abnormality of chromosome segregation (HP:0002916)1.85782398
142Abnormality of the thoracic spine (HP:0100711)1.85701170
143Abnormality of the anterior chamber (HP:0000593)1.84292589
144Neoplasm of striated muscle (HP:0009728)1.83275082
145Abnormality of dentin (HP:0010299)1.82438016
146Patent foramen ovale (HP:0001655)1.81862459
147Cerebellar dysplasia (HP:0007033)1.81836550
148Subcapsular cataract (HP:0000523)1.80548366
149Abnormality of fatty-acid metabolism (HP:0004359)1.80469994
150Multiple enchondromatosis (HP:0005701)1.80064696
151Partial agenesis of the corpus callosum (HP:0001338)1.80039750
152Absent phalangeal crease (HP:0006109)1.79694970
153Progressive sensorineural hearing impairment (HP:0000408)1.79586431
154Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)1.79373805
155Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.78279841
156EEG with generalized epileptiform discharges (HP:0011198)1.77937890
157Acute necrotizing encephalopathy (HP:0006965)1.77828012
158Preaxial hand polydactyly (HP:0001177)1.77689334
159Hyperinsulinemic hypoglycemia (HP:0000825)1.77285386
160Persistence of primary teeth (HP:0006335)1.76284518
161Barrel-shaped chest (HP:0001552)1.76047633
162Esophageal varix (HP:0002040)1.75696731
163Thin skin (HP:0000963)1.74253150
164Pachygyria (HP:0001302)1.73538327
165Abnormality of serum amino acid levels (HP:0003112)1.73281882
166Trigonocephaly (HP:0000243)1.71976700
167Aortic aneurysm (HP:0004942)1.71818434
16811 pairs of ribs (HP:0000878)1.71523510
169Small epiphyses (HP:0010585)1.71336724
170Cardiovascular calcification (HP:0011915)1.71241565
171Coxa valga (HP:0002673)1.71137199
172Myelomeningocele (HP:0002475)1.70959847
173Enlarged penis (HP:0000040)1.69443967
174Epileptiform EEG discharges (HP:0011182)1.69214914
175Aplasia/Hypoplasia of the tongue (HP:0010295)1.68427562
176Abnormality of the lumbar spine (HP:0100712)1.68196119
177Abnormality of midbrain morphology (HP:0002418)1.68069077
178Molar tooth sign on MRI (HP:0002419)1.68069077
179Abnormality of the odontoid process (HP:0003310)1.68017155
180Bicornuate uterus (HP:0000813)1.67459608
181Milia (HP:0001056)1.67153991
182Sclerocornea (HP:0000647)1.65732848
183Abnormality of the renal cortex (HP:0011035)1.64742587
184Decreased circulating renin level (HP:0003351)1.64700597
185Optic nerve coloboma (HP:0000588)1.64694104
186Papillary thyroid carcinoma (HP:0002895)1.64053214
187Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.63235710
188Buphthalmos (HP:0000557)1.63194278
189Anophthalmia (HP:0000528)1.62705179
190Posterior subcapsular cataract (HP:0007787)1.62536369
191Chronic hepatic failure (HP:0100626)1.62399787
192Short thumb (HP:0009778)1.62070413
193Postaxial hand polydactyly (HP:0001162)1.62058979
194Congenital primary aphakia (HP:0007707)1.58814028

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN16.25381580
2PNCK4.21309256
3MAP2K23.76056774
4PKN23.70921110
5EIF2AK33.52131062
6TRIB33.39049169
7CAMK1G2.76079357
8NTRK22.69486798
9MARK12.34179408
10SRPK12.31114716
11VRK12.23665630
12SCYL22.22267015
13FGFR22.21276774
14DMPK2.14041558
15MAPKAPK32.09521511
16BCKDK10.6683576
17BCR1.99385660
18NME21.92558326
19EPHA41.91884693
20NME11.86923481
21ZAP701.81910426
22NTRK31.78807976
23PAK21.78788906
24RPS6KB21.75752178
25KSR11.71411767
26EEF2K1.65263300
27INSRR1.60921763
28VRK21.56908588
29STK38L1.51799332
30KIT1.51556740
31MAP2K11.50069158
32MUSK1.42977210
33WEE11.37055310
34PIK3CG1.26677496
35PTK61.20665189
36STK111.20208129
37FLT31.19719399
38SGK21.18086746
39FRK1.14854321
40WNK41.07712266
41AKT31.05801075
42DYRK1A1.05142258
43CAMKK11.02771922
44RPS6KC11.00991209
45RPS6KL11.00991209
46STK380.98014593
47GRK10.95890380
48UHMK10.94243935
49RPS6KA60.94231306
50MAPK130.93633384
51FES0.93172384
52PDGFRB0.91910088
53DAPK20.89972689
54MAPK150.86671799
55PIK3CA0.84197614
56TIE10.77484780
57SIK20.74722389
58SGK4940.74556854
59SGK2230.74556854
60RPS6KA20.72827685
61AURKA0.70782546
62MTOR0.70734158
63IRAK30.70466188
64EPHB20.68578732
65MINK10.67529246
66MAP2K60.66436875
67CDK50.65669676
68STK390.61639704
69CHEK20.61519817
70MAPK120.61247872
71CSF1R0.60902105
72PLK20.57931567
73PKN10.57886916
74LRRK20.56069768
75ILK0.55171135
76PRKAA10.55166160
77SIK10.55030685
78CDK190.52907622
79DYRK1B0.52458366
80CHUK0.51951938
81CAMK40.51634375
82LATS10.51480104
83ADRBK10.51019528
84ROCK10.50811819
85CAMK10.50796784
86PIM20.50064487
87RET0.49454746
88RPS6KB10.48955291
89TTN0.48236037
90PINK10.48070143
91PRKCZ0.47764477
92TRIM280.47531575
93CAMKK20.46098648
94PRKCI0.45638107
95STK30.45615997
96PLK40.45375166
97PDK20.45008481
98GRK50.44086548
99CSNK1G10.43728669
100RIPK10.43670056
101PRKACA0.42923578
102PDPK10.42641965
103TAOK30.41935639
104PAK60.41459603
105PRKDC0.41448207
106DYRK20.41419063
107STK160.40337374
108MAP3K100.39683396
109SGK10.39584136
110PRKACB0.39521830
111PDK10.38633638
112NTRK10.37631926
113MAP3K90.36894778
114BRAF0.36814050
115CSNK1D0.36659377
116CHEK10.36094235
117OXSR10.35988676
118PRKCH0.35845693
119CCNB10.35201321
120RPS6KA30.34550079
121FER0.34322508
122EGFR0.34029538
123LATS20.33880774
124FGFR30.33790993
125MAPK30.33317518
126MAP3K80.33157557
127KSR20.32506812
128DDR20.31779847
129WNK10.29784305
130TYRO30.29495024
131MAP3K20.28595944
132MST1R0.28249992
133MET0.26318558
134RPS6KA10.25019491
135IRAK20.24878147
136PASK0.24391202
137DAPK30.23934817
138PDGFRA0.23748105
139MAPK110.20904716
140PTK20.19164136
141PDK40.17260429
142PDK30.17260429
143PRKD30.16461031
144TAOK10.16332187
145TBK10.16083983
146MAPK10.16030799
147CSNK1G30.15978779
148RAF10.15975703
149MAP3K10.15765517
150TSSK60.15701580
151EPHA30.15606081
152ABL10.13910786
153MAP3K30.13455939
154CSNK1E0.13126291
155CAMK1D0.12005457
156AKT20.11666108
157NEK60.11627215
158CDK40.11550984
159PRKD10.11087173
160AKT10.10564271
161CSNK1G20.10390058
162MATK0.10138920
163MAP3K70.10106437
164JAK20.08902143
165MAP3K110.08763534
166IGF1R0.08140111

Predicted pathways (KEGG)

RankGene SetZ-score
1Pancreatic secretion_Homo sapiens_hsa049728.30493164
2Protein digestion and absorption_Homo sapiens_hsa049745.78123736
3Fat digestion and absorption_Homo sapiens_hsa049755.72685415
4Protein export_Homo sapiens_hsa030603.54603027
5Dorso-ventral axis formation_Homo sapiens_hsa043203.39586664
6Folate biosynthesis_Homo sapiens_hsa007903.23346738
7Cyanoamino acid metabolism_Homo sapiens_hsa004603.11797610
8Glycine, serine and threonine metabolism_Homo sapiens_hsa002603.05475086
9Maturity onset diabetes of the young_Homo sapiens_hsa049502.93912963
10Glycerolipid metabolism_Homo sapiens_hsa005612.79408872
11RNA polymerase_Homo sapiens_hsa030202.22249132
12Basal cell carcinoma_Homo sapiens_hsa052172.20655624
13Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.18941572
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.18289462
15Hedgehog signaling pathway_Homo sapiens_hsa043401.96732311
16Propanoate metabolism_Homo sapiens_hsa006401.85504717
17Axon guidance_Homo sapiens_hsa043601.83814619
18Steroid biosynthesis_Homo sapiens_hsa001001.69123232
19Circadian rhythm_Homo sapiens_hsa047101.64221059
20Type II diabetes mellitus_Homo sapiens_hsa049301.60536272
21Fatty acid biosynthesis_Homo sapiens_hsa000611.60377358
22Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.53635892
23Arginine and proline metabolism_Homo sapiens_hsa003301.49883436
24Fatty acid elongation_Homo sapiens_hsa000621.47605281
25Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.47283456
26Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.45293383
27Vitamin digestion and absorption_Homo sapiens_hsa049771.36160344
28Renin-angiotensin system_Homo sapiens_hsa046141.31695270
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.27647294
302-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.27061539
31Biosynthesis of amino acids_Homo sapiens_hsa012301.24686534
32Circadian entrainment_Homo sapiens_hsa047131.22945993
33Fanconi anemia pathway_Homo sapiens_hsa034601.20903709
34Tight junction_Homo sapiens_hsa045301.20315560
35Tyrosine metabolism_Homo sapiens_hsa003501.13643843
36Oocyte meiosis_Homo sapiens_hsa041141.13324637
37Nicotine addiction_Homo sapiens_hsa050331.10791069
38N-Glycan biosynthesis_Homo sapiens_hsa005101.10221182
39Mismatch repair_Homo sapiens_hsa034301.08349937
40Vascular smooth muscle contraction_Homo sapiens_hsa042701.07001001
41Phototransduction_Homo sapiens_hsa047441.05897545
42Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.04967548
43GABAergic synapse_Homo sapiens_hsa047271.03316625
44RNA transport_Homo sapiens_hsa030131.02602012
45Cysteine and methionine metabolism_Homo sapiens_hsa002701.02239719
46Steroid hormone biosynthesis_Homo sapiens_hsa001400.98234017
47alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.98177256
48Linoleic acid metabolism_Homo sapiens_hsa005910.97747238
49Homologous recombination_Homo sapiens_hsa034400.97100512
50TGF-beta signaling pathway_Homo sapiens_hsa043500.96442504
51Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.92545307
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.89320132
53Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.89239477
54mRNA surveillance pathway_Homo sapiens_hsa030150.88503627
55Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.88500950
56Gap junction_Homo sapiens_hsa045400.87892669
57cGMP-PKG signaling pathway_Homo sapiens_hsa040220.87833753
58Notch signaling pathway_Homo sapiens_hsa043300.87102328
59Taste transduction_Homo sapiens_hsa047420.85944021
60Adherens junction_Homo sapiens_hsa045200.85512332
61Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84378037
62Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.84108225
63Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.83058030
64Wnt signaling pathway_Homo sapiens_hsa043100.81230912
65Other glycan degradation_Homo sapiens_hsa005110.81107358
66Selenocompound metabolism_Homo sapiens_hsa004500.80155417
67Salivary secretion_Homo sapiens_hsa049700.79728644
68cAMP signaling pathway_Homo sapiens_hsa040240.78587670
69Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.78477978
70beta-Alanine metabolism_Homo sapiens_hsa004100.76567259
71Primary bile acid biosynthesis_Homo sapiens_hsa001200.76440370
72Hippo signaling pathway_Homo sapiens_hsa043900.76387687
73Base excision repair_Homo sapiens_hsa034100.75038178
74Alcoholism_Homo sapiens_hsa050340.74827549
75RNA degradation_Homo sapiens_hsa030180.74552874
76Serotonergic synapse_Homo sapiens_hsa047260.74346274
77One carbon pool by folate_Homo sapiens_hsa006700.74146637
78Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.73948510
79Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.73908489
80Lysine degradation_Homo sapiens_hsa003100.73632489
81Cardiac muscle contraction_Homo sapiens_hsa042600.73355973
82Ovarian steroidogenesis_Homo sapiens_hsa049130.72607683
83Long-term depression_Homo sapiens_hsa047300.69811901
84Pyruvate metabolism_Homo sapiens_hsa006200.69519386
85Renin secretion_Homo sapiens_hsa049240.68962195
86Morphine addiction_Homo sapiens_hsa050320.68939605
87Systemic lupus erythematosus_Homo sapiens_hsa053220.68867175
88Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.68788722
89Glutamatergic synapse_Homo sapiens_hsa047240.68679386
90Influenza A_Homo sapiens_hsa051640.68096056
91Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65647542
92Mineral absorption_Homo sapiens_hsa049780.64986863
93Cell cycle_Homo sapiens_hsa041100.64144157
94Colorectal cancer_Homo sapiens_hsa052100.63550276
95Melanogenesis_Homo sapiens_hsa049160.60532432
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.59889556
97Aldosterone synthesis and secretion_Homo sapiens_hsa049250.59596086
98Oxytocin signaling pathway_Homo sapiens_hsa049210.59546473
99Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.58875794
100Vibrio cholerae infection_Homo sapiens_hsa051100.58516570
101Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.57747610
102Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.56926446
103ECM-receptor interaction_Homo sapiens_hsa045120.56467491
104Parkinsons disease_Homo sapiens_hsa050120.56038291
105Sulfur metabolism_Homo sapiens_hsa009200.54589403
106Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.54381447
107Fatty acid degradation_Homo sapiens_hsa000710.53945739
108Basal transcription factors_Homo sapiens_hsa030220.53233787
109Gastric acid secretion_Homo sapiens_hsa049710.52499907
110Sulfur relay system_Homo sapiens_hsa041220.52080037
111Glutathione metabolism_Homo sapiens_hsa004800.51923749
112Olfactory transduction_Homo sapiens_hsa047400.51428034
113Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.51260618
114Cholinergic synapse_Homo sapiens_hsa047250.50631230
115ABC transporters_Homo sapiens_hsa020100.49897221
116Insulin secretion_Homo sapiens_hsa049110.46798803
117Dopaminergic synapse_Homo sapiens_hsa047280.46781934
118Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46772318
119Starch and sucrose metabolism_Homo sapiens_hsa005000.46719077
120Ribosome_Homo sapiens_hsa030100.46647394
121Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.45739666
122Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.45614379
123Carbon metabolism_Homo sapiens_hsa012000.44336266
124Arginine biosynthesis_Homo sapiens_hsa002200.44304038
125Fructose and mannose metabolism_Homo sapiens_hsa000510.42024035
126Alzheimers disease_Homo sapiens_hsa050100.41431520
127Retinol metabolism_Homo sapiens_hsa008300.40538553
128Spliceosome_Homo sapiens_hsa030400.38476723
129Tryptophan metabolism_Homo sapiens_hsa003800.38252630
130Oxidative phosphorylation_Homo sapiens_hsa001900.38235799
131Metabolic pathways_Homo sapiens_hsa011000.37556899
132Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37433385
133Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.36811187
134Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.36520787
135Arachidonic acid metabolism_Homo sapiens_hsa005900.34045232
136Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.32815124
137Legionellosis_Homo sapiens_hsa051340.32070940
138Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.30607184
139Carbohydrate digestion and absorption_Homo sapiens_hsa049730.22772068
140Calcium signaling pathway_Homo sapiens_hsa040200.19073734
141Ether lipid metabolism_Homo sapiens_hsa005650.16699735
142Peroxisome_Homo sapiens_hsa041460.15135505
143Lysosome_Homo sapiens_hsa041420.14688194
144SNARE interactions in vesicular transport_Homo sapiens_hsa041300.14341609
145Fatty acid metabolism_Homo sapiens_hsa012120.13325266
146Regulation of autophagy_Homo sapiens_hsa041400.13245965
147Histidine metabolism_Homo sapiens_hsa003400.12476559
148Nitrogen metabolism_Homo sapiens_hsa009100.11900285
149Galactose metabolism_Homo sapiens_hsa000520.10562136
150Butanoate metabolism_Homo sapiens_hsa006500.08490928
151Chemical carcinogenesis_Homo sapiens_hsa052040.07560556
152VEGF signaling pathway_Homo sapiens_hsa043700.07284542
153Endometrial cancer_Homo sapiens_hsa052130.06930427
154Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.06187120
155Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.05126128
156Huntingtons disease_Homo sapiens_hsa050160.04353658
157Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.01840819
158Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.01602329
159Pentose phosphate pathway_Homo sapiens_hsa000300.01394010
160Glycerophospholipid metabolism_Homo sapiens_hsa005640.01297346
161Bile secretion_Homo sapiens_hsa049760.01075170
162Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.00327487
163Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0711539
164Prostate cancer_Homo sapiens_hsa05215-0.0678730
165Cocaine addiction_Homo sapiens_hsa05030-0.0549929
166Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0357690
167Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980-0.0333530
168mTOR signaling pathway_Homo sapiens_hsa04150-0.0324304
169Viral myocarditis_Homo sapiens_hsa05416-0.0057774

Most similar genes based on co-expression Upload to Enrichr

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